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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

BACKGROUND: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing...

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Autores principales: Sobhani, Maryam, Tabatabaiefar, Mohammad Amin, Ghafouri-Fard, Soudeh, Rajab, Asadollah, Hojjat, Asal, Kajbafzadeh, Abdol-Mohammad, Noori-Daloii, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961406/
https://www.ncbi.nlm.nih.gov/pubmed/31937257
http://dx.doi.org/10.1186/s12881-020-0950-4
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author Sobhani, Maryam
Tabatabaiefar, Mohammad Amin
Ghafouri-Fard, Soudeh
Rajab, Asadollah
Hojjat, Asal
Kajbafzadeh, Abdol-Mohammad
Noori-Daloii, Mohammad Reza
author_facet Sobhani, Maryam
Tabatabaiefar, Mohammad Amin
Ghafouri-Fard, Soudeh
Rajab, Asadollah
Hojjat, Asal
Kajbafzadeh, Abdol-Mohammad
Noori-Daloii, Mohammad Reza
author_sort Sobhani, Maryam
collection PubMed
description BACKGROUND: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and type-2 diabetes mellitus (T2DM). Our study adds to literature significant associations between WS and T2DM. CASE PRESENTATION: In this study, we analyzed the clinical and genetic data of two families with high prevalence of WS and T2DM. Genetic linkage analysis and DNA sequencing were exploited to identify pathogenic variants. One novel pathogenic variant (c.2243-2244insC) and one known pathogenic (c.1232_1233delCT) (frameshift) variant were identified in exon eight of WFS1 gene. CONCLUSIONS: The mutational and phenotypic spectrum of WS is broadened by our report of novel WFS1 mutation. Our results reveal the value of molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. This study also confirms the role of WFS1 in T2DM.
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spelling pubmed-69614062020-01-17 Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report Sobhani, Maryam Tabatabaiefar, Mohammad Amin Ghafouri-Fard, Soudeh Rajab, Asadollah Hojjat, Asal Kajbafzadeh, Abdol-Mohammad Noori-Daloii, Mohammad Reza BMC Med Genet Case Report BACKGROUND: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and type-2 diabetes mellitus (T2DM). Our study adds to literature significant associations between WS and T2DM. CASE PRESENTATION: In this study, we analyzed the clinical and genetic data of two families with high prevalence of WS and T2DM. Genetic linkage analysis and DNA sequencing were exploited to identify pathogenic variants. One novel pathogenic variant (c.2243-2244insC) and one known pathogenic (c.1232_1233delCT) (frameshift) variant were identified in exon eight of WFS1 gene. CONCLUSIONS: The mutational and phenotypic spectrum of WS is broadened by our report of novel WFS1 mutation. Our results reveal the value of molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. This study also confirms the role of WFS1 in T2DM. BioMed Central 2020-01-14 /pmc/articles/PMC6961406/ /pubmed/31937257 http://dx.doi.org/10.1186/s12881-020-0950-4 Text en © The Author(s). 2020, corrected publication 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Sobhani, Maryam
Tabatabaiefar, Mohammad Amin
Ghafouri-Fard, Soudeh
Rajab, Asadollah
Hojjat, Asal
Kajbafzadeh, Abdol-Mohammad
Noori-Daloii, Mohammad Reza
Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
title Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
title_full Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
title_fullStr Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
title_full_unstemmed Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
title_short Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
title_sort clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type ii: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961406/
https://www.ncbi.nlm.nih.gov/pubmed/31937257
http://dx.doi.org/10.1186/s12881-020-0950-4
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