TY - JOUR T1 - 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. AU - Horn,D, AU - Krebsová,A, AU - Kunze,J, AU - Reis,A, PY - 2000/6/8/pubmed PY - 2000/7/15/medline PY - 2000/6/8/entrez SP - 285 EP - 92 JF - American journal of medical genetics JO - Am J Med Genet VL - 92 IS - 4 N2 - 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the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.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 (Zmax=3.237 at Omax=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 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10842298/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_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=92&issue=4&spage=285 DB - PRIME DP - Unbound Medicine ER -