A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss

The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A (IVS4+1G>A); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the f...

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Autores principales: Sadeghi, Zahra, Chavoshi Tarzjani, Seyedeh Parisa, Miri Moosavi, Reyhaneh Sadat, Saber, Siamak, Ebrahimi, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434373/
https://www.ncbi.nlm.nih.gov/pubmed/32884365
http://dx.doi.org/10.2147/IMCRJ.S257654
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author Sadeghi, Zahra
Chavoshi Tarzjani, Seyedeh Parisa
Miri Moosavi, Reyhaneh Sadat
Saber, Siamak
Ebrahimi, Ahmad
author_facet Sadeghi, Zahra
Chavoshi Tarzjani, Seyedeh Parisa
Miri Moosavi, Reyhaneh Sadat
Saber, Siamak
Ebrahimi, Ahmad
author_sort Sadeghi, Zahra
collection PubMed
description The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A (IVS4+1G>A); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the first time in Iran and second time in the world. The case is a 21-year-old Iranian woman who has NSHL referred for genetic consultation, and her parents had a consanguineous marriage. To study the responsible genes for the mentioned disorder, whole exome sequencing (WES) was performed for the case. The result of WES analysis revealed a transition at the splice donor variant site of the MARVELD2 gene. The NGS result was confirmed by Sanger sequencing.
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spelling pubmed-74343732020-09-02 A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss Sadeghi, Zahra Chavoshi Tarzjani, Seyedeh Parisa Miri Moosavi, Reyhaneh Sadat Saber, Siamak Ebrahimi, Ahmad Int Med Case Rep J Case Report The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A (IVS4+1G>A); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the first time in Iran and second time in the world. The case is a 21-year-old Iranian woman who has NSHL referred for genetic consultation, and her parents had a consanguineous marriage. To study the responsible genes for the mentioned disorder, whole exome sequencing (WES) was performed for the case. The result of WES analysis revealed a transition at the splice donor variant site of the MARVELD2 gene. The NGS result was confirmed by Sanger sequencing. Dove 2020-07-27 /pmc/articles/PMC7434373/ /pubmed/32884365 http://dx.doi.org/10.2147/IMCRJ.S257654 Text en © 2020 Sadeghi et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Report
Sadeghi, Zahra
Chavoshi Tarzjani, Seyedeh Parisa
Miri Moosavi, Reyhaneh Sadat
Saber, Siamak
Ebrahimi, Ahmad
A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss
title A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss
title_full A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss
title_fullStr A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss
title_full_unstemmed A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss
title_short A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss
title_sort rare mutation in the marveld2 gene can cause nonsyndromic hearing loss
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434373/
https://www.ncbi.nlm.nih.gov/pubmed/32884365
http://dx.doi.org/10.2147/IMCRJ.S257654
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