Premium
First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene
Author(s) -
Domènech Enric,
Kruyer Helena,
Gómez Carolina,
Calvo Maria Teresa,
Nunes Virginia
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.982
Subject(s) - wolfram syndrome , prenatal diagnosis , diabetes insipidus , atrophy , medicine , mutation , gene , genetics , diabetes mellitus , pediatrics , fetus , pregnancy , pathology , biology , endocrinology
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. Copyright © 2004 John Wiley & Sons, Ltd.