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

S. R. Phadke, N. Gupta, K. M. Girisha, M. Kabra, M. Maeda, E. Vidal, A. Moser, S. Steinberg, R. D. Puri, I. C. Verma, N. Braverman

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10 Citations (Scopus)

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 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.

Original languageEnglish
Pages (from-to)107-110
Number of pages4
JournalJournal of Applied Genetics
Volume51
Issue number1
Publication statusPublished - 2010

All Science Journal Classification (ASJC) codes

  • Genetics

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    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. (2010). Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India. Journal of Applied Genetics, 51(1), 107-110.