Cargando…

Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Yunhua, Li, Linlin, Pan, Liqiu, Ling, Xiaoting, Wang, Chenghan, Huang, Chaoyu, Huang, Yifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512862/
https://www.ncbi.nlm.nih.gov/pubmed/37745850
http://dx.doi.org/10.3389/fgene.2023.1240701
_version_ 1785108450054766592
author Huang, Yunhua
Li, Linlin
Pan, Liqiu
Ling, Xiaoting
Wang, Chenghan
Huang, Chaoyu
Huang, Yifang
author_facet Huang, Yunhua
Li, Linlin
Pan, Liqiu
Ling, Xiaoting
Wang, Chenghan
Huang, Chaoyu
Huang, Yifang
author_sort Huang, Yunhua
collection PubMed
description Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study. The clinical characteristics and results of auxiliary examinations, including laboratory and imaging examinations, were collected, and 127 common hereditary deafness genes were detected by chip capture high-throughput sequencing. Protein structure predictions, the potential impact of mutations, and multiple sequence alignments were analyzed in silico. Compound heterozygote mutations c.1523_1528delinsAC (p.Thr508Asnfs*3) and c.422T>C (p.Phe141Ser) in the SLC26A4 gene were identified. The novel frameshift mutation c.1523_1528delinsAC produces a severely truncated pendrin protein, and c.422T>C has been suggested to be a disease-causing mutation. Therefore, this study demonstrates that the novel mutation c.1523_1528delinsAC in compound heterozygosity with c.422T>C in the SLC26A4 gene is likely to be the cause of NSEVA. Cochlear implants are the preferred treatment modality for patients with NSEVA and severe-to-profound sensorineural hearing loss Genetic counseling and prenatal diagnosis are essential for early diagnosis. These findings expand the mutational spectrum of SLC26A4 and improve our understanding of the molecular mechanisms underlying NSEVA.
format Online
Article
Text
id pubmed-10512862
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-105128622023-09-22 Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review Huang, Yunhua Li, Linlin Pan, Liqiu Ling, Xiaoting Wang, Chenghan Huang, Chaoyu Huang, Yifang Front Genet Genetics Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study. The clinical characteristics and results of auxiliary examinations, including laboratory and imaging examinations, were collected, and 127 common hereditary deafness genes were detected by chip capture high-throughput sequencing. Protein structure predictions, the potential impact of mutations, and multiple sequence alignments were analyzed in silico. Compound heterozygote mutations c.1523_1528delinsAC (p.Thr508Asnfs*3) and c.422T>C (p.Phe141Ser) in the SLC26A4 gene were identified. The novel frameshift mutation c.1523_1528delinsAC produces a severely truncated pendrin protein, and c.422T>C has been suggested to be a disease-causing mutation. Therefore, this study demonstrates that the novel mutation c.1523_1528delinsAC in compound heterozygosity with c.422T>C in the SLC26A4 gene is likely to be the cause of NSEVA. Cochlear implants are the preferred treatment modality for patients with NSEVA and severe-to-profound sensorineural hearing loss Genetic counseling and prenatal diagnosis are essential for early diagnosis. These findings expand the mutational spectrum of SLC26A4 and improve our understanding of the molecular mechanisms underlying NSEVA. Frontiers Media S.A. 2023-09-07 /pmc/articles/PMC10512862/ /pubmed/37745850 http://dx.doi.org/10.3389/fgene.2023.1240701 Text en Copyright © 2023 Huang, Li, Pan, Ling, Wang, Huang and Huang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Huang, Yunhua
Li, Linlin
Pan, Liqiu
Ling, Xiaoting
Wang, Chenghan
Huang, Chaoyu
Huang, Yifang
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
title Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
title_full Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
title_fullStr Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
title_full_unstemmed Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
title_short Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
title_sort non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the slc26a4 gene: a case report and literature review
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512862/
https://www.ncbi.nlm.nih.gov/pubmed/37745850
http://dx.doi.org/10.3389/fgene.2023.1240701
work_keys_str_mv AT huangyunhua nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview
AT lilinlin nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview
AT panliqiu nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview
AT lingxiaoting nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview
AT wangchenghan nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview
AT huangchaoyu nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview
AT huangyifang nonsyndromicenlargedvestibularaqueductcausedbynovelcompoundmutationsoftheslc26a4geneacasereportandliteraturereview