Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India.
J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717.
Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.
点状骨骺发育不良是一种罕见的常染色体隐性疾病，其特征为骨骺点状分布和长骨干骺端缩短。我们报告了来自印度的 3 名点状骨骺发育不良患者，并鉴定了他们的 PEX7 突变。在这些患者中未发现常见的 PEX7-L292X 等位基因，该等位基因由于在北欧白种人群中的一个奠基者效应而具有较高的频率。相反，描述了 2 个新的等位基因，包括 64_65delGC，其存在于单个 PEX7 单倍型上，可能代表印度人群中的常见等位基因。
