title: First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
abstract: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present. The sequence of the Wolfram syndrome gene (WFS1) was described in 1998, and mutations in the gene have been reported in many populations. To date, the function of the putative protein remains unknown. Here we report prenatal diagnosis by analysing the WFS1 gene, in a foetus belonging to a family with a child diagnosed for Wolfram syndrome. The parents are carriers of the c.2206G > C (G736R) mutation. To our knowledge this is the first description of prenatal diagnosis for Wolfram syndrome, based on the molecular analysis of the WFS1 gene.
authors.affiliation: Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica, L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: Enric
authors.initials: E
authors.lastname: Domènech
authors.forename: Helena
authors.initials: H
authors.lastname: Kruyer
authors.forename: Carolina
authors.initials: C
authors.lastname: Gómez
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Calvo
authors.forename: Virginia
authors.initials: V
authors.lastname: Nunes
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D020732:Cytogenetic Analysis / Q000379:methods*; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D005865:Gestational Age; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein