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Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p.Val2792Ala) as the possible deafness-causing...

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Autores principales: Yang, Jin-Yuan, Wang, Wei-Qian, Han, Ming-Yu, Huang, Sha-Sha, Wang, Guo-Jian, Su, Yu, Xu, Jin-Cao, Fu, Ying, Kang, Dong-Yang, Yang, Kun, Zhang, Xin, Liu, Xing, Gao, Xue, Yuan, Yong-Yi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673454/
https://www.ncbi.nlm.nih.gov/pubmed/36401330
http://dx.doi.org/10.1186/s12920-022-01368-9
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author Yang, Jin-Yuan
Wang, Wei-Qian
Han, Ming-Yu
Huang, Sha-Sha
Wang, Guo-Jian
Su, Yu
Xu, Jin-Cao
Fu, Ying
Kang, Dong-Yang
Yang, Kun
Zhang, Xin
Liu, Xing
Gao, Xue
Yuan, Yong-Yi
Dai, Pu
author_facet Yang, Jin-Yuan
Wang, Wei-Qian
Han, Ming-Yu
Huang, Sha-Sha
Wang, Guo-Jian
Su, Yu
Xu, Jin-Cao
Fu, Ying
Kang, Dong-Yang
Yang, Kun
Zhang, Xin
Liu, Xing
Gao, Xue
Yuan, Yong-Yi
Dai, Pu
author_sort Yang, Jin-Yuan
collection PubMed
description Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p.Val2792Ala) as the possible deafness-causing variants. Eight year follow up identified one new affected individual in this family, who also showed congenital, severe to profound sensorineural hearing loss. By whole exome sequencing, we identified a new splice-site variant c.5531+1G > C (maternal allele), in a compound heterozygote with previously identified missense variant c.8375 T > C (p.Val2792Ala) (paternal allele) in MYO15A as the disease-causing variants. The new affected individual underwent unilateral cochlear implantation at the age of 1 year, and 5 year follow-up showed satisfactory speech and language outcomes. Our results further indicate that MYO15A-associated hearing loss is good candidates for cochlear implantation, which is in accordance with previous report. In light of our findings and review of the literatures, 58 splice-site variants in MYO15A are correlated with a severe deafness phenotype, composed of 46 canonical splice-site variants and 12 non-canonical splice-site variants. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01368-9.
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spelling pubmed-96734542022-11-19 Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A Yang, Jin-Yuan Wang, Wei-Qian Han, Ming-Yu Huang, Sha-Sha Wang, Guo-Jian Su, Yu Xu, Jin-Cao Fu, Ying Kang, Dong-Yang Yang, Kun Zhang, Xin Liu, Xing Gao, Xue Yuan, Yong-Yi Dai, Pu BMC Med Genomics Research Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p.Val2792Ala) as the possible deafness-causing variants. Eight year follow up identified one new affected individual in this family, who also showed congenital, severe to profound sensorineural hearing loss. By whole exome sequencing, we identified a new splice-site variant c.5531+1G > C (maternal allele), in a compound heterozygote with previously identified missense variant c.8375 T > C (p.Val2792Ala) (paternal allele) in MYO15A as the disease-causing variants. The new affected individual underwent unilateral cochlear implantation at the age of 1 year, and 5 year follow-up showed satisfactory speech and language outcomes. Our results further indicate that MYO15A-associated hearing loss is good candidates for cochlear implantation, which is in accordance with previous report. In light of our findings and review of the literatures, 58 splice-site variants in MYO15A are correlated with a severe deafness phenotype, composed of 46 canonical splice-site variants and 12 non-canonical splice-site variants. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01368-9. BioMed Central 2022-11-18 /pmc/articles/PMC9673454/ /pubmed/36401330 http://dx.doi.org/10.1186/s12920-022-01368-9 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Yang, Jin-Yuan
Wang, Wei-Qian
Han, Ming-Yu
Huang, Sha-Sha
Wang, Guo-Jian
Su, Yu
Xu, Jin-Cao
Fu, Ying
Kang, Dong-Yang
Yang, Kun
Zhang, Xin
Liu, Xing
Gao, Xue
Yuan, Yong-Yi
Dai, Pu
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
title Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
title_full Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
title_fullStr Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
title_full_unstemmed Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
title_short Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
title_sort addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in myo15a
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673454/
https://www.ncbi.nlm.nih.gov/pubmed/36401330
http://dx.doi.org/10.1186/s12920-022-01368-9
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