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首页> 外文期刊>Journal of orthopaedic research >Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation.
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Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation.

机译：先天性垂直距骨和CDMP-1基因突变的家庭中手脚异常异常。

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摘要

Isolated foot anomalies, including congenital vertical talus, were shown recently to occur in heterozygous carriers of CDMP-1 (cartilage-derived morphogenetic protein-1) gene mutations. Six families with isolated congenital vertical talus with apparent autosomal dominant inheritance were ascertained. DNA was isolated from 17 affected individuals and 24 unaffected individuals from these families and subjected to mutational analysis of the CDMP-1 gene. A missense mutation was identified (1312C>T) that results in an R438C substitution in the CDMP-1 active domain. This segregated with disease in one Northeren American family. Phenotypic variability in this family includes brachydactyly type C, clinodactyly, calcaneo valgus deformity, and congenital vertical talus. Metacarpophalangeal profiles (MCPPs) confirm incomplete penetrance in one family member. Hence, CDMP-1 mutations may be found in individuals with apparently isolated CVT, although careful examination of family members may reveal additional, subtle hand and foot abnormalities. However, mutations in CDMP-1 do not appear to be a frequent cause of isolated congenital vertical talus.
机译：最近发现孤立的足部异常，包括先天性垂直距骨，发生在CDMP-1（软骨衍生的形态发生蛋白1）基因突变的杂合子携带者中。确定了六个具有明显的常染色体显性遗传的先天性垂直距骨的家庭。从这些家族的17个患病个体和24个未患病个体中分离DNA，并对CDMP-1基因进行突变分析。鉴定出错义突变（1312C＞ T），其导致在CDMP-1活性域中的R438C取代。这与疾病隔离在一个北美人家庭中。该家族中的表型变异性包括近距离C型，斜向，钙外翻畸形和先天性距骨。掌指外形（MCPPs）证实一位家庭成员的外pen不完全。因此，尽管有仔细的家庭成员检查可能会发现其他细微的手脚异常，但在明显孤立的CVT的个体中可能会发现CDMP-1突变。但是，CDMP-1的突变似乎不是孤立的先天性垂直距骨的常见原因。

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