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

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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.

vol. 51

issue 1

107-110

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.

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1 Journal of Applied Genetics

1 2010

1 Braverman N.

1 Girisha K. M.

1 Gupta N.

1 Kabra M.

1 Maeda M.

1 Moser A.

1 Phadke S. R.

1 Puri R. D.

1 Steinberg S.

1 Verma I. C.

1 Vidal E.

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