Abstract
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 thePEX7 mutations identified in them. The commonPEX7-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 singlePEX7 haplotype and could represent a common allele in the Indian population.
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Phadke, S.R., Gupta, N., Girisha, K.M. et al. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. J Appl Genet 51, 107–110 (2010). https://doi.org/10.1007/BF03195717
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DOI: https://doi.org/10.1007/BF03195717