Premium
Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families
Author(s) -
Domènech E,
GómezZaera M,
Nunes V
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2004.00249.x
Subject(s) - wolfram syndrome , mitochondrial dna , genetics , mitochondrial encephalomyopathy , point mutation , locus (genetics) , lactic acidosis , biology , diabetes insipidus , gene duplication , gene , kearns–sayre syndrome , atrophy , mutation , medicine , endocrinology
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy. Patients with WS frequently develop deafness, diabetes insipidus, renal tract abnormalities, and diverse psychiatric illnesses, among others. A gene responsible for WS was identified on 4p16.1 ( WFS1 ). It encodes a putative 890 amino acid transmembrane protein present in a wide spectrum of tissues. A new locus for WS has been located on 4q22–24, providing evidence for the genetic heterogeneity of this syndrome. Six Spanish families with a total of seven WS patients were screened for mutations in the WFS1 ‐coding region by direct sequencing. We found three previously undescribed mutations c.873C > A, c.1949_50delAT, and c.2206G > C, as well as the duplication c.409_424dup16, formerly published as 425ins16. Several groups had detected deletions in the mitochondrial DNA (mtDNA) of WS patients. For this reason, we also studied the presence of mtDNA rearrangements as well as Leber's hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes, and A1555G point mutations in the WS families. No mtDNA abnormalities were detected.