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The variants below are all in the ZMPSTE24 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than ZMPSTE24, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the ZMPSTE24 full legend here.

244 public entries
entries per page

Path.

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Segregation

Reference

Template

Technique

Frequency

RE-site

Phenotype

Phenotype additional

Reference

Remarks

Geographic origin

Ethnic origin

Gender

Inheritance

Consanguinity

Fam_Pat

# reported

CK level

Protein data


-/?	-	c.-1269C>G + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00026	-	germline (inherited)	-	dbSNP-rs7548758	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	-	c.-1269C>G + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00026	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	9/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	-	c.-1149G>A + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00025	-	germline (inherited)	-	dbSNP-rs926830	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	-	c.-1149G>A + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00025	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	30/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	-	c.-954G>C + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00035	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	1/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	-	c.-522C>G + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00031	-	germline (inherited)	-	dbSNP-rs11811211	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	-	c.-522C>G + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00031	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	1/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-?/?	-	c.-370G>T	-	r.(=)	p.(=)	ZMPSTE24_00050	not in 100 control chromosomes	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	1/54 chromosomes	-	scleroderma	-	JdD	27 patients	-	France	-	unknown	-	-	1	-	-
-/?	-	c.-326G>A + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00028	-	germline (inherited)	-	dbSNP-rs3765483	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	-	c.-326G>A + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00028	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	9/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	-	c.-326G>A	-	r.(=)	p.(=)	ZMPSTE24_00028	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	2/54 chromosomes	-	scleroderma	-	JdD	27 patients	-	France	-	unknown	-	-	2	-	-
-/?	-	c.-326G>A	-	r.(=)	p.(=)	ZMPSTE24_00028	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	20/100 controls	-	-	-	JdD	100 control individuals	-	European	-	unknown	-	-	20	-	-
-/?	1	c.-954G>C + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00035	-	germline (inherited)	-	dbSNP-rs147867849	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	1	c.-370G>T + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00050	-	germline (inherited)	-	dbSNP-rs312262683	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	1	c.-194A>G + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00027	-	germline (inherited)	-	dbSNP-rs187549487	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	1	c.-194A>G + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00027	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	1/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
+/+	1_10	c.= + LMNA (1)	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	a	extreme leanness, severe insulin resistance, mixed calcific valvulopathy,low femoral bone mass	JdD	-	Italy	-	F	unknown	-	-	1	-	-
-/-	1_10	c.= + c.709G>T	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	India:New Delhi	mother of proband with restrictive dermopathy	India	-	F	unknown	-	-	2	-	-
-/-	1_10	c.= + c.1085dupT	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected first-cousin carrier parents	Turkey	-	M	isolated (sporadic)	yes	-	2	-	-
+/?	1_10	c.= + c.715G>T	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	4-generation family, unaffected (grand)parents	Taiwan	Taiwan, Atayal	-	isolated (sporadic)	unknown	-	4	-	-
-/-	1_10	c.= + c.1085dupT	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents	Canada	Mennonite	-	unknown	-	-	2	-	-
-/-	1_10	c.= + c.50delA	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrierfather	Poland	-	M	isolated (sporadic)	no	-	1	-	-
-/-	1_10	c.= + c.592_593del	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier mother	Poland	-	F	isolated (sporadic)	no	-	1	-	-
-/-	1_10	c.= + c.794A>G	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	dysplasia, mandibuloacral (MAD)	-	Cunningham 2010, JdD	2-generation family, unaffected carrier mother	(New Zealand)	-	M	isolated (sporadic)	no	-	1	-	-
-/-	1_10	c.= + c.743C>T	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier father	United States	-	M	familial, autosomal recessive	no	-	1	-	-
-/-	1_10	c.= + c.1349G>A	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier mother	United States	-	F	familial, autosomal recessive	no	-	1	-	-
-/-	1_10	c.= + c.1085dupT	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents	United States	-	-	familial, autosomal recessive	unknown	-	1	-	-
-/-	1_10	c.= + c.1020G>A	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents	United States	-	-	isolated (sporadic)	yes	-	1	-	-
-/-	1_10	c.= + c.281T>C	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier parents, brother and sister	Portugal	-	-	isolated (sporadic)	yes	-	4	-	-
-/-	1_10	c.= + c.1312C>T	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	yes	-	DNA	SEQ	-	-	diabetes; cardiomyopathy, dilated	-	fibroblast pre-laminin A accumulation, JdD	-	France	-	M	isolated (sporadic)	no	-	1	-	-
-/-	1_10	c.= + 11 others	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	syndrome, progeria, Nestor-Guillermo (NGPS)	-	Puente 2011, Cabanillas 2011, JdD	2-generation family, 1 affacted, third-cousin parents	Spain	-	M	isolated (sporadic)	yes	-	1	-	-
?/?	1_10	c.= + LMNA (1), BANF1 (2)	-	r.=	p.=	ZMPSTE24_00000	no variants 2nd chromosome	germline (inherited)	-	-	DNA	SEQ	-	-	syndrome, progeria, Nestor-Guillermo (NGPS)	-	Puente 2011, Cabanillas 2011, JdD	2-generation family, 1 affacted	Spain	-	M	isolated (sporadic)	no	-	1	-	-
-/?	1	c.50delA + 53 others	-	r.(?)	p.(Lys17Serfs*21)	ZMPSTE24_00021	-	germline (inherited)	-	dbSNP-rs281875360	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	1	c.50delA + c.592_593del	-	r.(?)	p.(Lys17Serfs*21)	ZMPSTE24_00021	-	germline (inherited)	yes	Smigiel 20120, Smigiel ESHG2009 P02.101	DNA	SEQ	-	-	dermopathy, restrictive (RD)	IUGR, decreased fetal movements, polyhydramnios; delivery 32w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest	Smigiel 20120, JdD	2-generation family, first child, related to 14122	Poland	-	?	isolated (sporadic)	-	-	1	-	-
+/?	1	c.50delA + c.592_593del	-	r.(?)	p.(Lys17Serfs*21)	ZMPSTE24_00021	-	germline (inherited)	yes	Smigiel 20120, Smigiel ESHG2009 P02.101	DNA	SEQ	-	-	dermopathy, restrictive (RD)	IUGR, decreased fetal movements, polyhydramnios; delivery 33w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest, thinned epidermal layers, focal hyperorthokeratosis, partial parakeratosis, immature/poorly developed hair follicles and sebaceous glands	Smigiel 20120, JdD	2-generation family, second child, related to 14121	Poland	-	?	isolated (sporadic)	-	-	1	-	-
+/?	1	c.50delA + c.=	-	r.(?)	p.(Lys17Serfs*21)	ZMPSTE24_00021	-	germline (inherited)	yes	Smigiel 20120, Smigiel ESHG2009 P02.101	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrierfather	Poland	-	M	isolated (sporadic)	no	-	1	-	-
+/?	1	c.54dupT + c.54dupT	-	r.54dup	p.Ile19Tyrfs*28	ZMPSTE24_00007	not in 100 control chromosomes	germline (inherited)	-	Moulson 2006, Miner 2010, (OMIM 0007)	DNA, RNA	DHPLC, RT-PCR, SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	2 related families (mothers have brother grandfathers), 5 affecteds from two unaffected heterozygous parent couples, unaffected heterozygous brother	United States	Mennonite	?	familial, autosomal recessive	-	-	10	-	-
+/?	1	c.54dupT + c.54dupT	-	r.54dup	p.Ile19Tyrfs*28	ZMPSTE24_00007	not in 100 control chromosomes	germline (inherited)	-	Moulson 2006, Miner 2010, (OMIM 0007)	DNA, RNA	DHPLC, RT-PCR, SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	2 related families (mothers have brother grandfathers), 5 affecteds from two unaffected heterozygous parent couples, unaffected heterozygous brother	United States	Mennonite	?	familial, autosomal recessive	-	-	10	-	-
-/?	1	c.54dupT + 53 others	-	r.(?)	p.(Ile19Tyrfs*28)	ZMPSTE24_00007	-	germline (inherited)	-	dbSNP-rs281875361	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	1	c.54dupT + c.826C>T	-	r.(?)	p.(Ile19Tyrfs*28)	ZMPSTE24_00007	-	germiline (ihnerited)	-	CNavarro, submitted	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	France:marseille	-	-	-	F	familial, autosomal recessive	no	-	1	-	-
+/?	1	c.121C>T + c.651T>C, c.743C>T	-	r.(?)	p.(Glu41*)	ZMPSTE24_00015	not in 200 control chromosomes	germline (inherited)	-	Miyoshi 2008, (OMIM 0004)	DNA	SEQ	-	-	dysplasia, mandibuloacral (MAD)	-	Miyoshi 2008, JdD	sister of MAD3300.5	Japan	-	F	isolated (sporadic)	no	-	1	-	WB preLMNA
+/?	1	c.121C>T + c.651T>C, c.743C>T	-	r.(?)	p.(Glu41*)	ZMPSTE24_00015	not in 200 control chromosomes	germline (inherited)	-	Miyoshi 2008, (OMIM 0004)	DNA	SEQ	-	-	dysplasia, mandibuloacral (MAD)	-	Miyoshi 2008, JdD	sister of MAD3300.3	Japan	-	F	isolated (sporadic)	no	-	1	-	WB preLMNA
+/?	1	c.121C>T	-	r.(?)	p.Glu41*	ZMPSTE24_00015	cloned in pRS416GPD, yeast STE24 complementation no activity	germline (inherited)	-	Miyoshi 2008	DNA	SEQ	-	-	in vitro	-	JdD	-	-	-	-	unknown	-	-	1	-	-
-/?	1	c.121C>T + 53 others	-	r.(?)	p.(Glu41*)	ZMPSTE24_00015	-	germline (inherited)	-	dbSNP-rs121908094	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+?/?	1	c.124-2A>C	-	r.spl?	p.?	ZMPSTE24_00010	-	germline (inherited)	-	-	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	United States:Marshfield, WI	-	United States	-	-	unknown	-	-	1	-	-
-/?	1i	c.124-2A>C + 53 others	-	r.spl	p.?	ZMPSTE24_00010	-	germline (inherited)	-	dbSNP-rs312262684	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	2	c.207_208del + 53 others	-	r.(?)	p.(Tyr70Serfs*4)	ZMPSTE24_00052	-	germline (inherited)	-	dbSNP-rs281875362	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	2	c.207_208del + c.794A>G	207_208delCT	r.(?)	p.(Tyr70Serfs*4)	ZMPSTE24_00052	de novo, in patient	de novo	yes	Cunningham 2010	DNA	SEQ	-	-	dysplasia, mandibuloacral (MAD)	-	Cunningham 2010, JdD	2-generation family, 1 affected	(New Zealand)	-	M	isolated (sporadic)	no	-	1	-	-
-/?	2	c.209_210del + 53 others	-	r.(?)	p.(Tyr70Serfs*4)	ZMPSTE24_00038	-	germline (inherited)	-	dbSNP-rs281875363	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	2	c.209_210del + c.209_210del	209_210delAT	r.(?)	p.(Tyr70Serfs*4)	ZMPSTE24_00038	-	germiline (ihnerited)	-	CNavarro, submitted	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	France:marseille	-	Turkey	-	F	familial, autosomal recessive	yes	-	1	-	-
+/?	2	c.209_210del + c.209_210del	209_210delAT	r.(?)	p.(Tyr70Serfs*4)	ZMPSTE24_00038	-	germiline (ihnerited)	-	CNavarro, submitted	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	France:marseille	-	Turkey	-	F	familial, autosomal recessive	yes	-	1	-	-
+/?	2i_5i	c.271-1446_628-127del + c.1085dupT	-	r.271_627del	p.Leu91_Leu209del	ZMPSTE24_00003	-	germline (inherited)	-	Navarro 2004, Navarro 2005	DNA, RNA	RT-PCR, SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	-	Netherlands	-	?	unknown	-	-	1	-	-
-/?	3	c.281T>C + 53 others	-	r.(?)	p.(Leu94Pro)	ZMPSTE24_00054	-	germline (inherited)	-	dbSNP-rs281875364	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	3	c.281T>C + c.281T>C	-	r.(?)	p.(Leu94Pro)	ZMPSTE24_00054	not in 200 control chromosomes	germline (inherited)	yes	BenYaou 2011	DNA	SEQ	-	BslI+	dysplasia, mandibuloacral, type B (MAD-B)	early-onset progeroid syndrome, congenital myopathy with fiber-type disproportion	BenYaou 2011, JdD	2-generation family, 1 affected, 2nd degree related parents	Portugal	-	F	isolated (sporadic)	yes	-	1	-	-
+/?	3	c.281T>C + c.281T>C	-	r.(?)	p.(Leu94Pro)	ZMPSTE24_00054	not in 200 control chromosomes	germline (inherited)	yes	BenYaou 2011	DNA	SEQ	-	BslI+	dysplasia, mandibuloacral, type B (MAD-B)	early-onset progeroid syndrome, congenital myopathy with fiber-type disproportion	BenYaou 2011, JdD	2-generation family, 1 affected, 2nd degree related parents	Portugal	-	F	isolated (sporadic)	yes	-	1	-	-
+/?	3	c.281T>C + c.=	-	r.(?)	p.(Leu94Pro)	ZMPSTE24_00054	not in 200 control chromosomes	germline (inherited)	yes	BenYaou 2011	DNA	SEQ	-	BslI+	-	-	JdD	2-generation family, unaffected carrier parents, brother and sister	Portugal	-	-	isolated (sporadic)	yes	-	4	-	-
+/?	3	c.296delC + c.1085dupT	-	r.(?)	p.(Pro99Leufs*38)	ZMPSTE24_00005	-	germline (inherited)	-	Navarro 2005	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	-	Italy	-	?	unknown	-	-	1	-	-
-/?	3	c.296delC + 53 others	-	r.(?)	p.(Pro99Leufs*38)	ZMPSTE24_00005	-	germline (inherited)	-	dbSNP-rs281875365	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	3i	c.357+114A>G + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00029	-	germline (inherited)	-	dbSNP-rs7516571	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	3i	c.357+114A>G + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00029	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	30/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
+?/?	4	c.401delG + c.1085dupT	-	r.(?)	p.(Ser134Metfs*3)	ZMPSTE24_00009	-	germline (inherited)	-	-	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	United States:Marshfield, WI	-	?	-	-	unknown	-	-	1	-	-
-/?	4	c.401delG + 53 others	-	r.(?)	p.(Ser134Metfs*3)	ZMPSTE24_00009	-	germline (inherited)	-	dbSNP-rs281875366	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	4i	c.474+83A>C + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00030	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	3/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	4i	c.474+83A>C	-	r.(=)	p.(=)	ZMPSTE24_00030	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	2/54 chromosomes	-	scleroderma	-	JdD	27 patients	-	France	-	unknown	-	-	2	-	-
-/?	4i	c.474+83A>C	-	r.(=)	p.(=)	ZMPSTE24_00030	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	3/100 controls	-	-	-	JdD	100 control individuals	-	European	-	unknown	-	-	3	-	-
-/?	4i	c.475-2A>G + 53 others	-	r.spl	p.?	ZMPSTE24_00043	-	germline (inherited)	-	dbSNP-rs312262685	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	4i	c.475-2A>G + c.628-2A>G	-	r.spl	p.(Val210Aspfs*21)	ZMPSTE24_00043	-	germiline (ihnerited)	-	CNavarro, submitted	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	France:marseille	-	-	-	M	familial, autosomal recessive	no	-	1	-	-
-/?	5i	c.474+83A>C + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00030	-	germline (inherited)	-	dbSNP-rs75470795	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	5	c.591dupT + c.591dupT	-	r.591dup	p.Ile198Tyrfs*20	ZMPSTE24_00006	not in 100 control chromosomes	germline (inherited)	-	Moulson 2006, (OMIM 0008)	DNA, RNA	DHPLC, RT-PCR, SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	unaffected heterozygous parents	GT	-	?	isolated (sporadic)	yes	-	3	-	-
+/?	5	c.591dupT + c.591dupT	-	r.591dup	p.Ile198Tyrfs*20	ZMPSTE24_00006	-	germline (inherited)	-	Moulson 2006, (OMIM 0008)	DNA, RNA	DHPLC, RT-PCR, SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	unaffected heterozygous parents	GT	-	?	isolated (sporadic)	yes	-	3	-	-
+/?	5	c.591dupT + c.1085dupT	-	r.591dup	p.Ile198Tyrfs*20	ZMPSTE24_00006	not in 100 control chromosomes	germline (inherited)	-	Moulson 2006, (OMIM 0008)	DNA, RNA	DHPLC, RT-PCR, SEQ	-	-	dermopathy, restrictive (RD)	-	JdD	archived DNA (paraffin-embedded)	Netherlands	-	?	unknown	-	-	1	-	-
-/?	5	c.591dupT + 53 others	-	r.(?)	p.Ile198Tyrfs*20	ZMPSTE24_00006	-	germline (inherited)	-	dbSNP-rs281875367	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	5	c.592_593del + 53 others	-	r.(?)	p.(Ile198Leufs*19)	ZMPSTE24_00020	-	germline (inherited)	-	dbSNP-rs281875368	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	5	c.592_593del + c.50delA	584_585delAT	r.(?)	p.(Ile198Leufs*19)	ZMPSTE24_00020	-	germline (inherited)	yes	Smigiel 20120, Smigiel ESHG2009 P02.101	DNA	SEQ	-	-	dermopathy, restrictive (RD)	IUGR, decreased fetal movements, polyhydramnios; delivery 32w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest	Smigiel 20120, JdD	2-generation family, first child, related to 14122	Poland	-	?	isolated (sporadic)	-	-	1	-	-
+/?	5	c.592_593del + c.50delA	584_585delAT	r.(?)	p.(Ile198Leufs*19)	ZMPSTE24_00020	-	germline (inherited)	yes	Smigiel 20120, Smigiel ESHG2009 P02.101	DNA	SEQ	-	-	dermopathy, restrictive (RD)	IUGR, decreased fetal movements, polyhydramnios; delivery 33w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest, thinned epidermal layers, focal hyperorthokeratosis, partial parakeratosis, immature/poorly developed hair follicles and sebaceous glands	Smigiel 20120, JdD	2-generation family, second child, related to 14121	Poland	-	?	isolated (sporadic)	-	-	1	-	-
+/?	5	c.592_593del + c.=	584_585delAT	r.(?)	p.(Ile198Leufs*19)	ZMPSTE24_00020	-	germline (inherited)	yes	Smigiel 20120, Smigiel ESHG2009 P02.101	DNA	SEQ	-	-	-	-	JdD	2-generation family, unaffected carrier mother	Poland	-	F	isolated (sporadic)	no	-	1	-	-
+/?	5i	c.627+1G>C + c.627+1G>C	-	r.475_627del	p.Thr159_Leu209del	ZMPSTE24_00016	not in 180 control chromosomes (Dutch); RNA blood	germline (inherited)	-	Sander 2008	DNA, RNA	RT-PCR, SEQ	-	DdeI+	dermopathy, restrictive (RD)	-	Sander 2008, JdD	related to 18671782.2, grandparents second-degree cousins	AE	-	M	isolated (sporadic)	yes	-	1	-	-
+/?	5i	c.627+1G>C + c.627+1G>C	-	r.475_627del	p.Thr159_Leu209del	ZMPSTE24_00016	not in 180 control chromosomes (Dutch); RNA blood	germline (inherited)	-	Sander 2008	DNA, RNA	RT-PCR, SEQ	-	DdeI+	dermopathy, restrictive (RD)	-	Sander 2008, JdD	related to 18671782.2, grandparents second-degree cousins	AE	-	M	isolated (sporadic)	yes	-	1	-	-
+/?	5i	c.627+1G>C + c.627+1G>C	-	r.475_627del	p.Thr159_Leu209del	ZMPSTE24_00016	not in 180 control chromosomes (Dutch); RNA blood	germline (inherited)	-	Sander 2008	DNA, RNA	RT-PCR, SEQ	-	DdeI+	dermopathy, restrictive (RD)	-	Sander 2008, JdD	related to 18671782.1, grandparents second-degree cousins	AE	-	?	isolated (sporadic)	yes	-	1	-	-
+/?	5i	c.627+1G>C + c.627+1G>C	-	r.475_627del	p.Thr159_Leu209del	ZMPSTE24_00016	not in 180 control chromosomes (Dutch); RNA blood	germline (inherited)	-	Sander 2008	DNA, RNA	RT-PCR, SEQ	-	DdeI+	dermopathy, restrictive (RD)	-	Sander 2008, JdD	related to 18671782.1, grandparents second-degree cousins	AE	-	?	isolated (sporadic)	yes	-	1	-	-
-/?	5i	c.627+1G>C + 53 others	-	r.spl	p.?	ZMPSTE24_00016	-	germline (inherited)	-	dbSNP-rs312262686	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	5i	c.627+18T>G + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00032	-	germline (inherited)	-	dbSNP-rs16827109	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	5i	c.627+18T>G + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00032	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	8/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	5i	c.627+18T>G	-	r.(=)	p.(=)	ZMPSTE24_00032	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	2/54 chromosomes	-	scleroderma	-	JdD	27 patients	-	France	-	unknown	-	-	2	-	-
-/?	5i	c.627+18T>G	-	r.(=)	p.(=)	ZMPSTE24_00032	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	14/100 controls	-	-	-	JdD	100 control individuals	-	European	-	unknown	-	-	14	-	-
-/?	5i	c.627+18T>G + c.627+18T>G	-	r.(=)	p.(=)	ZMPSTE24_00032	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	1/100 controls	-	-	-	JdD	100 control individuals	-	European	-	unknown	-	-	1	-	-
-/?	5i	c.627+18T>G + c.627+18T>G	-	r.(=)	p.(=)	ZMPSTE24_00032	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	1/100 controls	-	-	-	JdD	100 control individuals	-	European	-	unknown	-	-	1	-	-
-/?	5i	c.628-50T>C	-	r.(=)	p.(=)	ZMPSTE24_00051	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	3/54 chromosomes	-	scleroderma	-	JdD	27 patients	-	France	-	unknown	-	-	3	-	-
-/?	5i	c.628-50T>C	-	r.(=)	p.(=)	ZMPSTE24_00051	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	4/100 controls	-	-	-	JdD	100 control individuals	-	European	-	unknown	-	-	4	-	-
-/?	5i	c.628-50T>G + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00033	-	germline (inherited)	-	dbSNP-rs6677717	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	5i	c.628-50T>G + 41 others	-	r.(=)	p.(=)	ZMPSTE24_00033	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	3/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	5i	c.628-2A>G + 53 others	-	r.spl	p.?	ZMPSTE24_00041	-	germline (inherited)	-	dbSNP-rs312262687	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
+/?	5i	c.628-2A>G + c.475-2A>G	-	r.(?)	p.(Thr159_Leu209del)	ZMPSTE24_00041	-	germiline (ihnerited)	-	CNavarro, submitted	DNA	SEQ	-	-	dermopathy, restrictive (RD)	-	France:marseille	-	-	-	M	familial, autosomal recessive	no	-	1	-	-
-/?	6i	c.628-50T>C + 53 others	-	r.(=)	p.(=)	ZMPSTE24_00051	-	germline (inherited)	-	dbSNP-rs6677717	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	6	c.651T>C + c.121C>T, c.743C>T	-	r.(?)	p.(=)	ZMPSTE24_00017	-	germline (inherited)	-	Miyoshi 2008	DNA	SEQ	-	-	dysplasia, mandibuloacral (MAD)	-	Miyoshi 2008, JdD	sister of MAD3300.5	Japan	-	F	isolated (sporadic)	no	-	1	-	WB preLMNA
-/?	6	c.651T>C + c.121C>T, c.743C>T	-	r.(?)	p.(=)	ZMPSTE24_00017	-	germline (inherited)	-	Miyoshi 2008	DNA	SEQ	-	-	dysplasia, mandibuloacral (MAD)	-	Miyoshi 2008, JdD	sister of MAD3300.3	Japan	-	F	isolated (sporadic)	no	-	1	-	WB preLMNA
-/?	6	c.651T>C + 53 others	-	r.(?)	p.(=)	ZMPSTE24_00017	-	germline (inherited)	-	dbSNP-rs2076697	DNA	SEQ	0.06-0.26	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
?/?	6	c.651T>C + 53 others	615T>C (D217D)	r.(?)	p.(=)	ZMPSTE24_00017	-	germline (inherited)	-	dbSNP-rs2076697	DNA	SEQ	-	-	-	-	JdD	-	-	-	-	-	-	-	1	-	-
-/?	6	c.651T>C + 41 others	Asp217Asp	r.(?)	p.(=)	ZMPSTE24_00017	47 healthy elderly (>85y)	germline (inherited)	-	Halaschek-Wiener 2009	DNA	SEQ	8/94	-	-	-	JdD	-	Canada	-	-	unknown	-	-	94	-	-
-/?	6	c.651T>C	615T>C (D217D)	r.(?)	p.(=)	ZMPSTE24_00017	-	germline (inherited)	-	Gaudy-Marqueste 2009	DNA	SEQ	5/54 chromosomes	-	scleroderma	-	JdD	27 patients	-	France	-	unknown	-	-	5	-	-

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Legend: [ ZMPSTE24 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change ZMPSTE24 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data

Leiden Muscular Dystrophy pages

Zinc MetalloPeptidase (STE24 homolog, yeast) (ZMPSTE24)