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

• Authors: 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
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

CHONDRODYSPLASIA PUNCTATA; INDIA; MUTATION

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2010
• Volume: 51
• Issue: 1
• Pages: 107-110

Contributors

author

S.R. Phadke

author

N. Gupta

author

K.M. Girisha

author

M. Kabra

author

M. Maeda

author

E. Vidal

author

A. Moser

author

S. Steinberg

author

R.D. Puri

author

I.C. Verma

author

N. Braverman

• Document Type: ARTICLE
• Publication order reference: S.R. Phadke, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India