title: Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
abstract: 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.
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Oscar F
authors.initials: OF
authors.lastname: Chacon-Camacho
authors.affiliation: Institute of Human Genetics, University Hospital of Magdeburg, Magdeburg, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.affiliation: Institute of Human Genetics, University Hospital of Magdeburg, Magdeburg, Germany.
authors.forename: Denny
authors.initials: D
authors.lastname: Schanze
authors.affiliation: Department of Glaucoma, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Jasbeth
authors.initials: J
authors.lastname: Ledesma-Gil
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address: jczenteno@institutodeoftalmologia.org.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D010641:Phenotype; D018123:Receptors, Interleukin / Q000235:genetics*
chemical_list: C548979:Frem1 protein, human; D018123:Receptors, Interleukin
keywords: Aberrant hairline; Anal malformations; Anophthalmia; Bifid nasal tip; Coloboma; Cryptophthalmos; Eyelid malformations; FREM1; Hypertelorism; MOTA syndrome; Manitoba-oculo-tricho-anal syndrome