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Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.

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.[1]

References

  1. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. Phadke, S.R., Gupta, N., Girisha, K.M., Kabra, M., Maeda, M., Vidal, E., Moser, A., Steinberg, S., Puri, R.D., Verma, I.C., Braverman, N. J. Appl. Genet. (2010) [Pubmed]
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