Mutation Analysis Of The WFS1 Gene In Seven Danish Wolfram Syndrome Families; Four New Mutations Identified
Lars Hansen (1,2), Hans Eiberg (2), Timothy Barrett (3), Toke Bek (4), Per Kjærsgaard (5), Lisbeth Tranebjærg (1,2,6) and Thomas Rosenberg (7)
(1) The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark
(2) Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark
(3) Institute of Child Health, University of Birmingham, Birmingham, UK
(4) Department of Ophthalmology, University Hospital, University of Århus, Århus C, Denmark
(5) Department of Paediatrics, Sønderborg County Hospital, Sønderborg, Denmark
(6) Department of Audiology, HS Bispebjerg Hospital, Copenhagen NV, Denmark
(7) Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Hellerup, Denmark
Wolfram syndrome (WS) is a neuro-degenerative autosomal recessive (AR) disorder (OMIM #222300) caused by mutations in the WFS1 gene on 4p16.1. More than 120 mutations have previously been identified in WFS1 associated with AR WS, as well as autosomal dominant nonsyndromic low-frequency sensorineural hearing loss (LFSNHL). Four new mutations have been described in an article published in the European Journal of Human Genetics (Vol.13, pp. 1275–1284).
Dr L Hansen, The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Blegdamsvej 3b, DK-2200 Copenhagen N, Denmark.
Abstract available online.
(C) European Journal of Human Genetics.
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