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

Research output: Contribution to journalArticle

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 (US)
Pages (from-to)107-110
Number of pages4
JournalJournal of Applied Genetics
Volume51
Issue number1
DOIs
StatePublished - Jan 1 2010

Keywords

  • Chondrodysplasia punctata
  • India
  • Mutation
  • PEX7

ASJC Scopus subject areas

  • Genetics

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