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
✍ Scribed by Horn, Denise; Krebsov�, Alice; Kunze, J�rgen; Reis, Andr�
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 67 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.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.,