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Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
OBJECTIVE(S): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. MATERIALS AND METHODS: Here we present a 3.5-year-old female patient, an offspring of cons...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mashhad University of Medical Sciences
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776430/ https://www.ncbi.nlm.nih.gov/pubmed/29372044 http://dx.doi.org/10.22038/IJBMS.2017.23207.5908 |
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author | Amirian, Azam Dalili, Seyed Mohammad Zafari, Zahra Saber, Siamak Karimipoor, Morteza Akbari, Vahid Fazelifar, Amir Farjam Zeinali, Sirous |
author_facet | Amirian, Azam Dalili, Seyed Mohammad Zafari, Zahra Saber, Siamak Karimipoor, Morteza Akbari, Vahid Fazelifar, Amir Farjam Zeinali, Sirous |
author_sort | Amirian, Azam |
collection | PubMed |
description | OBJECTIVE(S): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. MATERIALS AND METHODS: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. RESULTS: DNA sequencing showed a c.1532_1534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. CONCLUSION: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. |
format | Online Article Text |
id | pubmed-5776430 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Mashhad University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-57764302018-01-25 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome Amirian, Azam Dalili, Seyed Mohammad Zafari, Zahra Saber, Siamak Karimipoor, Morteza Akbari, Vahid Fazelifar, Amir Farjam Zeinali, Sirous Iran J Basic Med Sci Short Communication OBJECTIVE(S): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. MATERIALS AND METHODS: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. RESULTS: DNA sequencing showed a c.1532_1534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. CONCLUSION: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. Mashhad University of Medical Sciences 2018-01 /pmc/articles/PMC5776430/ /pubmed/29372044 http://dx.doi.org/10.22038/IJBMS.2017.23207.5908 Text en Copyright: © Iranian Journal of Basic Medical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Communication Amirian, Azam Dalili, Seyed Mohammad Zafari, Zahra Saber, Siamak Karimipoor, Morteza Akbari, Vahid Fazelifar, Amir Farjam Zeinali, Sirous Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome |
title | Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome |
title_full | Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome |
title_fullStr | Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome |
title_full_unstemmed | Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome |
title_short | Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome |
title_sort | novel frameshift mutation in the kcnq1 gene responsible for jervell and lange-nielsen syndrome |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776430/ https://www.ncbi.nlm.nih.gov/pubmed/29372044 http://dx.doi.org/10.22038/IJBMS.2017.23207.5908 |
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