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

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 f...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2007-05, Vol.50 (3), p.188-199
Main Authors: Souraty, Noëlle, Noun, Peter, Djambas-Khayat, Claudia, Chouery, Eliane, Pangrazio, Alessandra, Villa, Anna, Lefranc, Gérard, Frattini, Annalisa, Mégarbané, André
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Consanguinity
Diseases of the osteoarticular system
DNA Mutational Analysis
DNA Primers - genetics
Exons
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes, Recessive
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Human genetics
Humans
Infant
Lebanon
Life Sciences
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical Education
Medical genetics
Medical sciences
Membrane Proteins - genetics
Molecular and cellular biology
Mutation
Neurological defects
Osteopetrosis
Osteopetrosis - enzymology
Osteopetrosis - genetics
OSTM1
Pedigree
Phenotype
RNA Splicing - genetics
Syria
TCIRG1
Ubiquitin-Protein Ligases - genetics
Vacuolar Proton-Translocating ATPases - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2007.01.005