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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.

Journal of Applied Genetics

2010

tom 51

nr 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.

Ograniczanie wyników

1 Journal of Applied Genetics

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.

1 2010

Wyniki wyszukiwania

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