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, Ann B. 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
StatePublished - 2010

Fingerprint

Rhizomelic Chondrodysplasia Punctata
India
Alleles
Mutation
Chondrodysplasia Punctata
Founder Effect
Haplotypes
Population
Bone and Bones
Type 1 Rhizomelic chondrodysplasia punctata

Keywords

  • Chondrodysplasia punctata
  • India
  • Mutation
  • PEX7

ASJC Scopus subject areas

  • Genetics

Cite this

Phadke, S. R., Gupta, N., Girisha, K. M., Kabra, M., Maeda, M., Vidal, E., ... Braverman, N. (2010). Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India. Journal of Applied Genetics, 51(1), 107-110.

Rhizomelic chondrodysplasia punctata type 1 : Report of mutations in 3 children from India. / Phadke, S. R.; Gupta, N.; Girisha, K. M.; Kabra, M.; Maeda, M.; Vidal, E.; Moser, Ann B.; Steinberg, S.; Puri, R. D.; Verma, I. C.; Braverman, N.

In: Journal of Applied Genetics, Vol. 51, No. 1, 2010, p. 107-110.

Research output: Contribution to journalArticle

Phadke, SR, Gupta, N, Girisha, KM, Kabra, M, Maeda, M, Vidal, E, Moser, AB, Steinberg, S, Puri, RD, Verma, IC & Braverman, N 2010, 'Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India', Journal of Applied Genetics, vol. 51, no. 1, pp. 107-110.
Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E et al. Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India. Journal of Applied Genetics. 2010;51(1):107-110.
Phadke, S. R. ; Gupta, N. ; Girisha, K. M. ; Kabra, M. ; Maeda, M. ; Vidal, E. ; Moser, Ann B. ; Steinberg, S. ; Puri, R. D. ; Verma, I. C. ; Braverman, N. / Rhizomelic chondrodysplasia punctata type 1 : Report of mutations in 3 children from India. In: Journal of Applied Genetics. 2010 ; Vol. 51, No. 1. pp. 107-110.
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