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

• Autorzy: 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
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

PL

chondrodysplasia punctata type 1; child; India; mutation; long bone; rhizomelic shortening

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 1
• Strony: 107-110
• Opis fizyczny: p.107-110,fig.,ref.

Twórcy

autor

Phadke S R

• Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India

autor

Gupta N

• Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

autor

Girisha K M

• Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India

autor

Kabra M

• Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

autor

Maeda M

• McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Center, Baltimore, MD, USA

autor

Vidal E

• McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Center, Baltimore, MD, USA

autor

Moser A

• Kennedy Krieger Institute, Johns Hopkins Medical Center, Baltimore, MD, USA

autor

Steinberg S

• Kennedy Krieger Institute, Johns Hopkins Medical Center, Baltimore, MD, USA

autor

Puri R D

• Department of Genetic Medicine, Sir Gangaram, Hospital, New Delhi, India

autor

Verma I C

• Department of Genetic Medicine, Sir Gangaram, Hospital, New Delhi, India

autor

Braverman N

• McGill University, Montreal Children's Hospital Research Institute, Montreal, QC, CA

Bibliografia

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