title: Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
abstract: Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different mutations identified to date. We present the clinical and molecular analysis of four unrelated families of Mexican origin with an AAS phenotype, in whom FGD1 sequencing was performed. This analysis identified two stop mutations not previously reported in the literature: p.Gln664* and p.Glu380*. Phenotypically, every male patient met the clinical criteria of the syndrome, whereas discrepancies were found between phenotypes in female patients. Our results identify two novel mutations in FGD1, broadening the spectrum of reported mutations; and provide further delineation of the phenotypic variability previously described in AAS.
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: Mariana
authors.initials: M
authors.lastname: Pérez-Coria
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: José J
authors.initials: JJ
authors.lastname: Lugo-Trampe
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: Michell
authors.initials: M
authors.lastname: Zamudio-Osuna
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: Iram P
authors.initials: IP
authors.lastname: Rodríguez-Sánchez
authors.affiliation: Centro Mesoamericano de Estudios en Salud Pública y Desastres, Universidad Autónoma de Chiapas (UNACH) Tapachula, Chis, México.
authors.forename: Angel
authors.initials: A
authors.lastname: Lugo-Trampe
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: Beatriz
authors.initials: B
authors.lastname: de la Fuente-Cortez
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: Luis D
authors.initials: LD
authors.lastname: Campos-Acevedo
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL) Monterrey, Nuevo Leon, México.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Martínez-de-Villarreal
keywords: Aarskog–Scott syndrome; FGD1 gene; X-linked; mental retardation; novel mutation