title: [Familial Wolfram syndrome].
abstract: Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children.
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie. Electronic address: bessahraoui.mimouna@yahoo.fr.
authors.forename: M
authors.initials: M
authors.lastname: Bessahraoui
authors.affiliation: Service de génétique médicale, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, BP 3079, 06202 Nice cedex 3, France.
authors.forename: V
authors.initials: V
authors.lastname: Paquis
authors.affiliation: Service de génétique médicale, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, BP 3079, 06202 Nice cedex 3, France.
authors.forename: C
authors.initials: C
authors.lastname: Rouzier
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie.
authors.forename: K
authors.initials: K
authors.lastname: Bouziane-Nedjadi
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie.
authors.forename: M
authors.initials: M
authors.lastname: Naceur
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie.
authors.forename: S
authors.initials: S
authors.lastname: Niar
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie.
authors.forename: A
authors.initials: A
authors.lastname: Zennaki
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie.
authors.forename: G
authors.initials: G
authors.lastname: Boudraa
authors.affiliation: Clinique Amilcar-Cabral, 31000 Oran, Algérie.
authors.forename: M
authors.initials: M
authors.lastname: Touhami
mesh_terms: D000462:Algeria; D002648:Child; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D014929:Wolfram Syndrome / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein