Chacon-Camacho Oscar F, Zenker Martin, Schanze Denny, Ledesma-Gil Jasbeth, Zenteno Juan C
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Institute of Human Genetics, University Hospital of Magdeburg, Magdeburg, Germany.
Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Epub 2017 Jan 19.
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c.2626delG, p.Val876Tyrfs*16) were identified in the compound heterozygous state, thus broadening the mutational spectrum of the disease. We performed a literature review of the clinical and genetic features of individuals carrying FREM1 mutations.
曼尼托巴眼-毛发-肛门（MOTA）综合征是一种由FREM1基因双等位基因突变引起的罕见疾病，临床特征为眼睑畸形、发际线异常、鼻尖分叉或宽大以及胃肠道异常等多种表现。在本报告中，我们描述了一名具有与MOTA综合征相符表型（前发际线异常、眼距增宽、单侧无眼畸形以及鼻尖分叉和宽大）的患者，在该患者中鉴定出两个新的FREM1突变（c.305 A>G，p.Asp102Gly；和c.2626delG，p.Val876Tyrfs*16）处于复合杂合状态，从而拓宽了该疾病的突变谱。我们对携带FREM1突变个体的临床和遗传特征进行了文献综述。
