Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

Chacon-Camacho, Oscar F; Barragán-Arévalo, Tania; Villarroel, Camilo E; Almanza-Monterrubio, Mónica; Zenteno, Juan Carlos

Chacon-Camacho, Oscar F; Barragán-Arévalo, Tania; Villarroel, Camilo E; Almanza-Monterrubio, Mónica; Zenteno, Juan Carlos.

Afiliación

Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Estado de México, Mexico.
Barragán-Arévalo T; Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico.
Villarroel CE; Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico.
Almanza-Monterrubio M; Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico; Department of Strabismus, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Zenteno JC; 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.

Eur J Med Genet ; 63(5): 103877, 2020 May.

Article en En | MEDLINE | ID: mdl-32028042

ABSTRACT

ABSTRACT

Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p.Gln59Arg; and c.608C > T, p.Thr203Met) were identified.

Asunto(s)

Actinas/genética; Anomalías Craneofaciales/patología; Discapacidades del Desarrollo/patología; Fenotipo; Niño; Anomalías Craneofaciales/genética; Discapacidades del Desarrollo/genética; Ojo/patología; Humanos; Lactante; Masculino; Mutación Missense; Síndrome

Palabras clave

ACTB; ACTG1; BWCFF; Baraitser-winter cerebrofrontofacial syndrome; Congenital fibrosis of extraocular muscles; Eye coloboma; Hypospadias; Pachygyria; Ptosis; Strabismus

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fenotipo / Discapacidades del Desarrollo / Actinas / Anomalías Craneofaciales Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article

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