NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) AND Ehlers-Danlos syndrome, musculocontractural type
| Significance: | Pathogenic |
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| ClinVar: | RCV000002429 |
Variant: NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) |
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| Type: | Variant |
Allele: NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) 17378 |
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| Gene: | CHST14 |
| Type: | single nucleotide variant |
| Location: |
Chr15: 40764290
- assembly
GRCh37 Chr15: 40472091 - assembly GRCh38 |
| References: | dbSNP:
121908258 OMIM: 608429.0004 UniProtKB/Swiss-Prot: VAR_063757 UniProtKB: Q8NCH0#VAR_063757 |
Condition |
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| Disease: | Ehlers-Danlos syndrome, musculocontractural type |
Citations |
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In 2 Japanese brothers with adducted thumbs, clubfeet, and progressive joint and skin laxity (EDSMC1; 601776), originally described by Sonoda and Kouno (2000), Dundar et al. (2009) identified homozygosity for an 878A-G transition in the CHST14 gene, resulting in a tyr293-to-cys (Y293C) substitution. Studies in transfected HEK293/T cells showed only the predominant 55-kD species but not the minor 44-kD species seen with wildtype, and no significant amount of D4ST1 was detected in the medium, suggesting degradation of the mutant before reaching the Golgi. PMID:10766984, PMID:20004762 |
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In 2 probands from unrelated consanguineous Japanese families with bilateral thumb adduction, clubfeet, and progressive joint and skin laxity, Miyake et al. (2010) identified compound heterozygosity for the same Y293C mutation and the P281L mutation (608429.0005) in the CHST14 gene. The mutations were not detected in 376 Japanese control individuals. PMID:20533528 |
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