期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 146A, 期 17, 页码 2221-2226出版社
WILEY
DOI: 10.1002/ajmg.a.32239
关键词
autosomal recessive inheritance; homozygosity; founder effect; microcephaly; myopia; chorioretinal dystrophy; slender limbs; narrow hands and feet; tapered fingers; short stature
Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity. Here, we describe the clinical and molecular findings in 14 patients from an isolated Greek island population. The clinical phenotype was fairly homogeneous, although microcephaly was not constant, and some patients had severe visual disability. All patients were homozygous for a novel intragenic COH1 deletion spanning exon 6 to exon 16, Suggesting a founder effect. The discovers, of this Mutation has made carrier detection and prenatal diagnosis possible ill this population. (C) 2008 Wiley-Liss, Inc.
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