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Page 1
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM. de Muijnck C, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654. doi: 10.1016/j.survophthal.2023.01.012. Epub 2023 Feb 9. Surv Ophthalmol. 2023. PMID: 36764396 Free article. Review.
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. ...Diabetes mellitus was see …
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal rec …
Wolfram syndrome 1 and Wolfram syndrome 2.
Rigoli L, Di Bella C. Rigoli L, et al. Curr Opin Pediatr. 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf. Curr Opin Pediatr. 2012. PMID: 22790102 Review.
PURPOSE OF REVIEW: Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. ...Experimental st …
PURPOSE OF REVIEW: Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes m …
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Mair H, Fowler N, Papatzanaki ME, Sudhakar P, Maldonado RS. Mair H, et al. Ophthalmic Genet. 2022 Aug;43(4):567-572. doi: 10.1080/13816810.2022.2068038. Epub 2022 Apr 21. Ophthalmic Genet. 2022. PMID: 35450504
BACKGROUND: In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. ...
BACKGROUND: In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an a …
A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).
Torkamandi S, Rezaei S, Mirfakhraie R, Bayat S, Piltan S, Gholami M. Torkamandi S, et al. J Clin Lab Anal. 2020 Aug;34(8):e23358. doi: 10.1002/jcla.23358. Epub 2020 May 17. J Clin Lab Anal. 2020. PMID: 32419160 Free PMC article.
BACKGROUND: Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. ...Pathogenic variants in the WFS1 gene, encoding wolframin, are known to be the main cause of Wolfram's syndrome. In this study, we present the clin …
BACKGROUND: Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. ...Pathogenic variants …
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Acharya A, et al. J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21. J Hum Genet. 2021. PMID: 33879837 Free PMC article.
BACKGROUND: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. ...We correlated clinical and imaging data with the genetic findings and their associated phenotypes. RESULTS: We identified a homozy …
BACKGROUND: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic at …
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC. Young TL, et al. Hum Mol Genet. 2001 Oct 15;10(22):2509-14. doi: 10.1093/hmg/10.22.2509. Hum Mol Genet. 2001. PMID: 11709538
Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome. ...First, a relative homozygous for the mutation was diagnosed at age 3 years with insul …
Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1, the gene for recessive …
Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.
Bansal V, Boehm BO, Darvasi A. Bansal V, et al. Diabetologia. 2018 Oct;61(10):2180-2188. doi: 10.1007/s00125-018-4690-3. Epub 2018 Jul 16. Diabetologia. 2018. PMID: 30014265
AIMS/HYPOTHESIS: Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the WFS1 gene. ...The age at diagnosis of diabetes for these eight individuals (17.8 …
AIMS/HYPOTHESIS: Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and …
Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.
Mirrahimi M, Safi S, Mohammadzadeh M, Doozandeh A, Suri F. Mirrahimi M, et al. J Ophthalmic Vis Res. 2021 Oct 25;16(4):602-610. doi: 10.18502/jovr.v16i4.9750. eCollection 2021 Oct-Dec. J Ophthalmic Vis Res. 2021. PMID: 34840683 Free PMC article.
Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features. CONCLUSION: Identical mutations in the Wolfram syndrome causative gene can lead to variable manifestations of the syndrome even in t …
Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features. CONCLUSION: I …
[Wolfram-like syndrome: a case report].
Zhu BX, Zhang L, Wang HY, Wang R, Jia W. Zhu BX, et al. Zhonghua Yan Ke Za Zhi. 2024 Feb 11;60(2):180-184. doi: 10.3760/cma.j.cn112142-20231213-00288. Zhonghua Yan Ke Za Zhi. 2024. PMID: 38296324 Chinese.
Different from classical autosomal recessive Wolfram syndrome, Wolfram-like syndrome is an autosomal dominant disorder caused by a heterozygous mutation in the WFS1 gene. ...Optical coherence tomography imaging demonstrated a distinctive thicken …
Different from classical autosomal recessive Wolfram syndrome, Wolfram-like syndrome is an autosomal dominant di …
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F. Rigoli L, et al. Pediatr Res. 2020 Feb;87(3):456-462. doi: 10.1038/s41390-019-0487-4. Epub 2019 Jul 2. Pediatr Res. 2020. PMID: 31266054
OBJECTIVES: We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype-phenotype correlations. ...Differently combined WS1 clinical features were detected in 53.3% of patients. We found 35 WFS1 differe …
OBJECTIVES: We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible …
65 results