Helmholtz Gemeinschaft

Search
Browse
Statistics
Feeds

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity

Item Type:Article
Title:Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity
Creators Name:Horn, D. and Krebsova, A. and Kunze, J. and Reis, A.
Abstract:A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Z(max)=3.237 at O(max)=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype.
Keywords:Chorioretinal Dystrophy, Heterogeneity, Hypotonia, Mirhosseini-Holmes-Walton Syndrome
Source:American Journal of Medical Genetics
ISSN:0148-7299
Publisher:Wiley-Liss (U.S.A.)
Volume:92
Number:4
Page Range:285-292
Date:5 June 2000
Official Publication:https://doi.org/10.1002/(SICI)1096-8628(20000605)92:4<285::AID-AJMG13>3.0.CO;2-D
PubMed:View item in PubMed

Repository Staff Only: item control page

Open Access
MDC Library