Dehghan Roghayeh, Behnam Mahdiyeh, Moafi Alireza, Salehi Mansoor
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran.
Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Case Reports Immunol. 2021 Aug 25;2021:3143609. doi: 10.1155/2021/3143609. eCollection 2021.
Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by loss-of-function mutations in the VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. He also had mild anemia accompanied by positive antiphospholipid antibodies, the latter has never been previously reported in Cohen syndrome.
科恩综合征是一种常染色体隐性疾病，主要症状包括智力缺陷、进行性视网膜病变、肌张力减退、小头畸形、儿童中期起病的肥胖、间歇性中性粒细胞减少以及面部畸形特征。该综合征具有高度的表型异质性，由VPS13B基因的功能丧失突变引起。在此，我们报道一名11岁伊朗男孩，其VPS13B基因存在一种新的纯合无义突变（c.8698G > T，p.E2900X），该男孩具有科恩综合征的主要症状。他还伴有轻度贫血以及抗磷脂抗体阳性，后者在科恩综合征中此前从未有过报道。
