A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.
Delague
Valérie
V
Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Bareil
Corinne
C
Bouvagnet
Patrice
P
Salem
Nabiha
N
Chouery
Eliane
E
Loiselet
Jacques
J
Mégarbané
André
A
Claustres
Mireille
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D018450:Disease Progression; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007861:Lebanon; D008297:Male; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D012868:Skin Abnormalities / Q000235:genetics*