Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Heredia, Miguel López de; Clèries, Ramón; Nunes, Virginia

doi:10.1038/gim.2012.180

Cited by 138 publications

(236 citation statements)

References 45 publications

(88 reference statements)

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“…The majority of variants reported until now in the WFS1 gene causing autosomal recessive Wolfram syndrome result in loss-of-function. 12 1.8 Estimated frequency of the disease (incidence at birth ('birth prevalence') or population prevalence. If known to be variable between ethnic groups, please report)…”

Section: Analytical Validationmentioning

confidence: 99%

“…21 In a systematic review, analysing the published clinical data in 392 patients with WFS, 98.2% had DM and 82.14% developed OA. 12 By age 18, the probability of having developed the DM is 93.60%, OA 79.06%, sensorineural hearing loss 40.56%, DI 35.20%, urinary defects 11.42% and neurological, psychiatric or developmental problems 7.57%. 12 …”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

“…12 By age 18, the probability of having developed the DM is 93.60%, OA 79.06%, sensorineural hearing loss 40.56%, DI 35.20%, urinary defects 11.42% and neurological, psychiatric or developmental problems 7.57%. 12 …”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

“…An individual without signs of DM and OA is unlikely to have a positive test as both clinical manifestations can be seen in the majority (90%) by the second decade (14-15 years of age for DM and at 25-26 years for OA), this increases to 95% probability at 23-24 years for DM and at 40-41 years for OA, 12 and so the clinical specificity will be high. However, in some cases the onset of clinical features is variable and this can lower the clinical specificity.…”

Section: Clinical Specificity (Proportion Of Negative Tests If the DImentioning

confidence: 99%

“…22 The median age of death is 27 ± 11.4 years. 12 Patients with WFS2 have overlapping features with WFS1, plus defective platelet aggregation resulting in peptic ulcer bleeding, but importantly an absence of DI. 2,23 Children who are suspected of having WFS will undergo a number of investigations including MRI of the brain and orbit to look for generalised brain atrophy (cerebellum, medulla and pons), absence of signal from the posterior pituitary and reduced signal from the optic nerve.…”

Section: Positive Clinical Predictive Valuementioning

confidence: 99%

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Clinical utility gene card for: Wolfram syndrome

et al. 2016

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Section: Analytical Validationmentioning

confidence: 99%

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

Section: Clinical Specificity (Proportion Of Negative Tests If the DImentioning

confidence: 99%

Section: Positive Clinical Predictive Valuementioning

confidence: 99%

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Clinical utility gene card for: Wolfram syndrome

et al. 2016

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Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells

et al. 2023

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Wolfram syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full‐length wild‐type (WT) WFS1, a missense mutant P724L, and two C‐terminally truncated mutants, W837X and Y652X. We compared their stability by overexpressing them in MIN6 and HEK293T cells. The C‐terminally truncated mutants W837X and Y652X are degraded more rapidly than the missense P724L mutant or wild‐type WFS1 in MIN6 cells. In contrast, Y652X is more stable than WT or other mutant WFS1 proteins in HEK293T. In conclusion, we found that C‐terminally truncated WFS1 mutants are selectively degraded in a cell type‐specific manner.

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Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all‐frequencies

Bai

Zhang

et al. 2014

American J of Med Genetics Pt A

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Hearing loss is the most common sensory disorder affecting 278 million people in the world, and more than 60% of hearing loss patients can be attributed to genetic causes. Although many loci have been linked to hereditary hearing impairment, most of the causative genes have not been identified as yet. The goal of this study was to investigate the cause of dominantly inherited sensorineural all-frequency hearing loss in a six-generation Chinese family. We performed exome sequencing to screen responsible candidate genes in three family members with all-frequency hearing loss and one member with normal hearing. Sanger sequencing was employed to examine the variant mutations in the members of this family and 200 healthy persons. PCR-RFLP was performed to further confirm the nucleotide mutation. A novel missense mutation c.2389G > A (GAC → AAC) in WFS1 gene was identified, which was co-segregated with the hearing loss phenotype. No mutation was found in 200 controls and the family members with normal hearing in this site. The present study identifies, for the first time, a novel mutation in WFS1 gene that causes non-syndromic hearing loss in all, rather than in low or high, frequencies.

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Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Cited by 138 publications

References 45 publications

Clinical utility gene card for: Wolfram syndrome

Clinical utility gene card for: Wolfram syndrome

Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells

Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all‐frequencies

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