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Journal of Applied Genetics 51(1), 2010, pp. 107-110

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


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.

Key words: chondrodysplasia punctata, India, mutation, PEX7

Correspondence: S.R. Phadke, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India; e-mail: shubha@sgpgi.ac.in

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