| Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. | |
| | |
MedLine Citation:
|
PMID: 21623591 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Purpose. Wolfram syndrome (WS) or diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) (OMIM 222300) is an inherited neurodegenerative disease characterized by diabetes mellitus and optic atrophy as the 2 major criteria, followed later in life by deafness, diabetes insipidus, and various signs of neurologic impairment. The presence of a cataract has been variably mentioned in WS. Method. Two members of a family had thorough ophthalmic examination and their DNA was screened for mutations in mitochondrial DNA, WFS1, OPA1, and OPA3 genes. Results. We report a patient who first had surgery for bilateral cataract at age 5 and who subsequently presented typical signs of WS, i.e., diabetes mellitus, optic atrophy with reduced visual acuity at 20/400 on both eyes at age 22, and mild deafness. The patient was found to be a compound heterozygote for 2 truncating mutations in WFS1, the major WS gene. She carried the previously reported c.1231_1233 delCT and a novel c.2431_2465dup35 mutation. She also was heterozygote for a novel OPA1 sequence variant, c.929A>G in exon 9, whose pathogenicity remains uncertain. The patient's mother was a heterozygous carrier of the c.2431_2465dup35 mutation. She did not have diabetes mellitus or optic atrophy but had bilateral polar cataract. She did not carry the OPA1 sequence variant. Conclusions. Cataract could be a marker for the WFS1 heterozygosity in this family, namely the c.2431_2465dup35 mutation. |
| | |
Authors:
|
Salah Mohamed Cherif Titah; Isabelle Meunier; Catherine Blanchet; Severine Lopez; Gerard Rondouin; Guy Lenaers; Patrizia Amati-Bonneau; Pascal Reynier; Veronique Paquis-Flucklinger; Christian P Hamel |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-5-24 |
Journal Detail:
|
Title: European journal of ophthalmology Volume: - ISSN: 1724-6016 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
|
Created Date: 2011-5-30 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9110772 Medline TA: Eur J Ophthalmol Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
CHRU Montpellier, Centre de Référence Genetic Sensory Diseases, Montpellier - France; and INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier - France; and Université Montpellier 1, Montpellier - France. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Visual acuity, contrast sensitivity, subjective quality of vision, and quality of life with 4 differ...
Next Document: Precision, morphology, and histology of corneal flap cuts using a 200-kHz femtosecond laser.