Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

Noëlle Souraty, Peter Noun, Claudia Djambas-Khayat, Eliane Chouery, Alessandra Pangrazio, Anna Villa, Gérard Lefranc, Annalisa Frattini, André Mégarbané

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal recessive osteopetrosis is a severe hereditary bone disease whose cellular basis is in the osteoclast, but with heterogeneous molecular defects. We hereby report the clinical and the molecular study of seven patients affected by the recessive form of osteopetrosis (ARO) from six families originating from the Middle-East: four from Lebanon and two from Syria. Parental consanguinity was found in five families. The mean age of diagnosis was 3 months. Failure to thrive, prominent forehead, exophthalmia, optic atrophy, hepatosplenomegaly, neurological manifestations, anaemia, thrombocytopenia, hypocalcaemia, elevated hepatic enzymes and acid phosphatase, and an early fatal outcome were common. Macrocephaly, strabismus, and brain malformations were relatively less common. Mutations were identified in two genes: TCIRG1 and OSTM1. Phenotype-genotype correlation is discussed.

Original languageEnglish
Pages (from-to)188-199
Number of pages12
JournalEuropean Journal of Medical Genetics
Volume50
Issue number3
DOIs
Publication statusPublished - May 2007

Keywords

  • Neurological defects
  • Osteopetrosis
  • OSTM1
  • TCIRG1

ASJC Scopus subject areas

  • Genetics

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