WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

Human Mutation
F KhanimT G Barrett

Abstract

Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an autosomal recessive mode of inheritance. Mutation analysis of the WFS1 gene in WS patients has identified mutations in 90% of patients. Most were compound heterozygotes with private mutations distributed throughout the gene with no obvious hotspots. The private nature of the mutations in WS patients and the low frequencies make it difficult to determine the biological or clinical relevance of these mutations. Mutation screening in patients with psychiatric disorders or diabetes mellitus has also been performed to test the hypothesis that heterozygous carriers of WFS1 gene mutations are at an increased risk following the observation that WS first-degree relatives have a higher frequency of these disorders. Most studies showed no association, however two missense mutations were identified that demonstrated significant association with psychiatric disorders and diabetes mellitus. Population association studies and functional studies of these variants will need to be performed to confirm...Continue Reading

References

Jun 1, 1977·Journal of Medical Genetics·F C Fraser, T Gunn
Jan 1, 1992·Journal of Inherited Metabolic Disease·S BundeyA R Fielder
Sep 4, 1993·Lancet·X Bu, J I Rotter
Mar 1, 1996·Annals of Neurology·N J ScoldingN Antoun
Dec 1, 1995·Diabetes Care·B T KinsleyR G Swift
Mar 10, 1998·Molecular Psychiatry·R G SwiftM Swift
Sep 14, 1999·Acta Neuropathologica·P ShannonJ Deck
Jul 14, 2000·American Journal of Medical Genetics·F MiddleN Craddock
Aug 6, 2000·Journal of Medical Genetics·T G BarrettJ Poulton

❮ Previous
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Citations

Apr 23, 2003·The Journal of Molecular Diagnostics : JMD·Johannes M W van ven OuwelandLambert D Dikkeschei
Feb 23, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Miguel López de HerediaVirginia Nunes
Sep 10, 2005·European Journal of Human Genetics : EJHG·Lars HansenThomas Rosenberg
Feb 17, 2010·Brain : a Journal of Neurology·P Yu-Wai-ManP F Chinnery
Sep 23, 2008·Human Molecular Genetics·Pierre A ZallouaCécile Julier
Feb 4, 2010·Current Opinion in Endocrinology, Diabetes, and Obesity·Christine M Oslowski, Fumihiko Urano
Nov 5, 2010·Diabetes, Obesity & Metabolism·C M Oslowski, F Urano
Nov 24, 2004·Archives of Disease in Childhood·J R Porter, T G Barrett
Jul 26, 2008·PLoS Genetics·Marija Dokmanovic-ChouinardRudolph L Leibel
Jan 13, 2012·PloS One·Concetta AloiGiuseppe d'Annunzio
Sep 15, 2011·Experimental Diabetes Research·Sung Hoon BackHun-Taeg Chung
May 9, 2014·Journal of Diabetes Research·Nabil RabhiJean-Sébastien Annicotte
Jul 12, 2005·Diabetes Research and Clinical Practice·Kouichi InukaiShigehiro Katayama
Jan 17, 2016·European Journal of Medical Genetics·Behnam Safarpour LimaBabak Emamalizadeh
Oct 27, 2004·Prenatal Diagnosis·Enric DomènechVirginia Nunes
Aug 4, 2012·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·O Rubio Cabezas, J Argente
Jul 18, 2012·Biochemical and Biophysical Research Communications·Hendrik LuukJens Hannibal
Mar 31, 2009·Progress in Neuro-psychopharmacology & Biological Psychiatry·Gil ZalsmanJ John Mann
May 26, 2007·Medicina clínica·Oscar Rubio Cabezas, Jesús Argente Oliver
Nov 23, 2005·Pediatric Clinics of North America·Meranda Nakhla, Constantin Polychronakos
Mar 11, 2004·Diabetic Medicine : a Journal of the British Diabetic Association·Z M LarsenUNKNOWN Danish Study Group of IDDM in Childhood
Aug 9, 2008·American Journal of Medical Genetics. Part a·Michael S HildebrandRichard J H Smith
Jul 10, 2008·The Journal of Comparative Neurology·June KawanoKoh Shinoda
Aug 27, 2010·Clinical Genetics·L RigoliC Di Bella
Sep 4, 2014·Pediatric Diabetes·Oscar Rubio-CabezasUNKNOWN International Society for Pediatric and Adolescent Diabetes
Aug 2, 2003·Biochemical and Biophysical Research Communications·Stuart C McBain, Noel G Morgan
Apr 6, 2016·Journal of Child and Adolescent Psychopharmacology·Jean XavierAngèle Consoli
Dec 21, 2010·Current Opinion in Cell Biology·Christine M Oslowski, Fumihiko Urano
Dec 19, 2002·Otolaryngologic Clinics of North America·Nicolas Gürtler, Anil K Lalwani
Jul 11, 2002·European Journal of Human Genetics : EJHG·Enric DomènechVirginia Nunes

❮ Previous
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