Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India

Background: Wolfram Syndrome (WFS) is a rare, autosomal recessive, progressive disorder characterized by childhood-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy, and sensorineural hearing loss (DIDMOAD). The confirmed early diagnosis of WFS is challenging due to the progressive nat...

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Autores principales: Chapla, Aaron, Johnson, Jabasteen, Korula, Sophy, Nisha, M, Ahmed, Anish, Varghese, Deny, Parthiban, R, Ravichandran, Lavanya, Jebasingh, Felix, Asha, H S, Mathai, Sarah, Simon, Anna, Thomas, Nihal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067832/
http://dx.doi.org/10.4103/2230-8210.342239
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author Chapla, Aaron
Johnson, Jabasteen
Korula, Sophy
Nisha, M
Ahmed, Anish
Varghese, Deny
Parthiban, R
Ravichandran, Lavanya
Jebasingh, Felix
Asha, H S
Mathai, Sarah
Simon, Anna
Thomas, Nihal
author_facet Chapla, Aaron
Johnson, Jabasteen
Korula, Sophy
Nisha, M
Ahmed, Anish
Varghese, Deny
Parthiban, R
Ravichandran, Lavanya
Jebasingh, Felix
Asha, H S
Mathai, Sarah
Simon, Anna
Thomas, Nihal
author_sort Chapla, Aaron
collection PubMed
description Background: Wolfram Syndrome (WFS) is a rare, autosomal recessive, progressive disorder characterized by childhood-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy, and sensorineural hearing loss (DIDMOAD). The confirmed early diagnosis of WFS is challenging due to the progressive nature of the disease and WFS1 rare heterozygous variants reported in young-onset DM, the need for comprehensive genetic screening for the early diagnosis of WFS and to characterize the phenotypic spectrum associated with diabetes mellitus. Aims and Objectives: To screen a comprehensive panel of seventeen monogenic diabetes genes in patients with DM, with a clinical suspicion of WFS/non autoimmune T1DM/Young onset DM patients who were tested negative for a MODY panel. Results: Fourteen patients positive for WFS1 variants identified by Next-generation sequencing. Ten patients were positive for homozygous WFS1 mutations, which includes a novel founder mutation WFS1 (NM_006005.3): c.1107_1108insA (p.Ala370SerfsTer173) in three families from south India. We have also identified rare heterozygous WFS1 variants in four patients with young onset diabetes. Conclusion: These findings project the need for NGS-based parallel multigene testing for early diagnosis of WFS and to identify heterozygous WFS1 variants implicated in young onset DM.
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spelling pubmed-90678322022-05-05 Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India Chapla, Aaron Johnson, Jabasteen Korula, Sophy Nisha, M Ahmed, Anish Varghese, Deny Parthiban, R Ravichandran, Lavanya Jebasingh, Felix Asha, H S Mathai, Sarah Simon, Anna Thomas, Nihal Indian J Endocrinol Metab Abstracts … Esicon 2021 Background: Wolfram Syndrome (WFS) is a rare, autosomal recessive, progressive disorder characterized by childhood-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy, and sensorineural hearing loss (DIDMOAD). The confirmed early diagnosis of WFS is challenging due to the progressive nature of the disease and WFS1 rare heterozygous variants reported in young-onset DM, the need for comprehensive genetic screening for the early diagnosis of WFS and to characterize the phenotypic spectrum associated with diabetes mellitus. Aims and Objectives: To screen a comprehensive panel of seventeen monogenic diabetes genes in patients with DM, with a clinical suspicion of WFS/non autoimmune T1DM/Young onset DM patients who were tested negative for a MODY panel. Results: Fourteen patients positive for WFS1 variants identified by Next-generation sequencing. Ten patients were positive for homozygous WFS1 mutations, which includes a novel founder mutation WFS1 (NM_006005.3): c.1107_1108insA (p.Ala370SerfsTer173) in three families from south India. We have also identified rare heterozygous WFS1 variants in four patients with young onset diabetes. Conclusion: These findings project the need for NGS-based parallel multigene testing for early diagnosis of WFS and to identify heterozygous WFS1 variants implicated in young onset DM. Wolters Kluwer - Medknow 2022-03 /pmc/articles/PMC9067832/ http://dx.doi.org/10.4103/2230-8210.342239 Text en Copyright: © 2022 Indian Journal of Endocrinology and Metabolism https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Abstracts … Esicon 2021
Chapla, Aaron
Johnson, Jabasteen
Korula, Sophy
Nisha, M
Ahmed, Anish
Varghese, Deny
Parthiban, R
Ravichandran, Lavanya
Jebasingh, Felix
Asha, H S
Mathai, Sarah
Simon, Anna
Thomas, Nihal
Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India
title Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India
title_full Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India
title_fullStr Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India
title_full_unstemmed Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India
title_short Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India
title_sort abstract 114: wfs1 gene associated diabetes phenotypes and identification of a novel founder mutation in southern india
topic Abstracts … Esicon 2021
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067832/
http://dx.doi.org/10.4103/2230-8210.342239
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