Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.
Eur J Med Genet
; 50(3): 188-99, 2007.
Article
em En
| MEDLINE
| ID: mdl-17400532
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteopetrose
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Líbano