Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
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چکیده
منابع مشابه
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
BACKGROUND Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports o...
متن کاملMOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.
MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the follow...
متن کاملEvidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome
PURPOSE Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. At the commencement of this study, its genetic basis was undefined. METHODS Homozygosity analysis was employed to map the causative locus using DNA samples from four probands of Cree ancestry. Af...
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Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mu...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2011
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2011.089631