WFS1

Wolfram syndrome 1 (wolframin), also known as WFS1, is a human gene.cite web | title = Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7466| accessdate = ]

PBB_Summary
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summary_text = This gene encodes a transmembrane protein. Mutations in this gene are associated with an autosomal recessive syndrome characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.cite web | title = Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7466| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Khanim F, Kirk J, Latif F, Barrett TG |title=WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. |journal=Hum. Mutat. |volume=17 |issue= 5 |pages= 357–67 |year= 2001 |pmid= 11317350 |doi= 10.1002/humu.1110
*cite journal | author=Cryns K, Sivakumaran TA, Van den Ouweland JM, "et al." |title=Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. |journal=Hum. Mutat. |volume=22 |issue= 4 |pages= 275–87 |year= 2004 |pmid= 12955714 |doi= 10.1002/humu.10258
*cite journal | author=McHugh RK, Friedman RA |title=Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. |journal=The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology |volume=288 |issue= 4 |pages= 370–81 |year= 2006 |pmid= 16550584 |doi= 10.1002/ar.a.20297
*cite journal | author=Polymeropoulos MH, Swift RG, Swift M |title=Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. |journal=Nat. Genet. |volume=8 |issue= 1 |pages= 95–7 |year= 1995 |pmid= 7987399 |doi= 10.1038/ng0994-95
*cite journal | author=Lesperance MM, Hall JW, Bess FH, "et al." |title=A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. |journal=Hum. Mol. Genet. |volume=4 |issue= 10 |pages= 1967–72 |year= 1996 |pmid= 8595423 |doi=
*cite journal | author=Inoue H, Tanizawa Y, Wasson J, "et al." |title=A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). |journal=Nat. Genet. |volume=20 |issue= 2 |pages= 143–8 |year= 1998 |pmid= 9771706 |doi= 10.1038/2441
*cite journal | author=Strom TM, Hörtnagel K, Hofmann S, "et al." |title=Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. |journal=Hum. Mol. Genet. |volume=7 |issue= 13 |pages= 2021–8 |year= 1999 |pmid= 9817917 |doi=
*cite journal | author=Van Camp G, Kunst H, Flothmann K, "et al." |title=A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. |journal=J. Med. Genet. |volume=36 |issue= 7 |pages= 532–6 |year= 1999 |pmid= 10424813 |doi=
*cite journal | author=Hardy C, Khanim F, Torres R, "et al." |title=Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. |journal=Am. J. Hum. Genet. |volume=65 |issue= 5 |pages= 1279–90 |year= 1999 |pmid= 10521293 |doi=
*cite journal | author=Furlong RA, Ho LW, Rubinsztein JS, "et al." |title=A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. |journal=Neurosci. Lett. |volume=277 |issue= 2 |pages= 123–6 |year= 2000 |pmid= 10624825 |doi=
*cite journal | author=Awata T, Inoue K, Kurihara S, "et al." |title=Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 2 |pages= 612–6 |year= 2000 |pmid= 10679252 |doi= 10.1006/bbrc.2000.2169
*cite journal | author=Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T |title=WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. |journal=Journal of affective disorders |volume=58 |issue= 1 |pages= 11–7 |year= 2000 |pmid= 10760554 |doi=
*cite journal | author=Gómez-Zaera M, Strom TM, Rodríguez B, "et al." |title=Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. |journal=Mol. Genet. Metab. |volume=72 |issue= 1 |pages= 72–81 |year= 2001 |pmid= 11161832 |doi= 10.1006/mgme.2000.3107
*cite journal | author=Kaytor EN, Zhu JL, Pao CI, Phillips LS |title=Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene. |journal=Endocrinology |volume=142 |issue= 3 |pages= 1041–9 |year= 2001 |pmid= 11181517 |doi=
*cite journal | author=Takeda K, Inoue H, Tanizawa Y, "et al." |title=WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. |journal=Hum. Mol. Genet. |volume=10 |issue= 5 |pages= 477–84 |year= 2001 |pmid= 11181571 |doi=
*cite journal | author=Tessa A, Carbone I, Matteoli MC, "et al." |title=Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. |journal=Hum. Mutat. |volume=17 |issue= 4 |pages= 348–9 |year= 2001 |pmid= 11295831 |doi= 10.1002/humu.32
*cite journal | author=Bespalova IN, Van Camp G, Bom SJ, "et al." |title=Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2501–8 |year= 2002 |pmid= 11709537 |doi=
*cite journal | author=Young TL, Ives E, Lynch E, "et al." |title=Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. |journal=Hum. Mol. Genet. |volume=10 |issue= 22 |pages= 2509–14 |year= 2002 |pmid= 11709538 |doi=
*cite journal | author=Crawford J, Zielinski MA, Fisher LJ, "et al." |title=Is there a relationship between Wolfram syndrome carrier status and suicide? |journal=Am. J. Med. Genet. |volume=114 |issue= 3 |pages= 343–6 |year= 2002 |pmid= 11920861 |doi=

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