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. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous mar...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2018-01-01
|
| Series: | Iranian Journal of Basic Medical Sciences |
| Subjects: | |
| Online Access: | http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdf |
| _version_ | 1818757078022356992 |
|---|---|
| author | Azam Amirian Seyed Mohammad Dalili Zahra Zafari Siamak Saber Morteza Karimipour Vahid Akbari Amirfarjam Fazelifar Sirous Zeinali |
| author_facet | Azam Amirian Seyed Mohammad Dalili Zahra Zafari Siamak Saber Morteza Karimipour Vahid Akbari Amirfarjam Fazelifar Sirous Zeinali |
| author_sort | Azam Amirian |
| collection | DOAJ |
| 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. 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. |
| first_indexed | 2024-12-18T06:05:13Z |
| format | Article |
| id | doaj.art-9b38e1cfd6d8411fa5820575c3cae96c |
| institution | Directory Open Access Journal |
| issn | 2008-3866 2008-3874 |
| language | English |
| last_indexed | 2024-12-18T06:05:13Z |
| publishDate | 2018-01-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Basic Medical Sciences |
| spelling | doaj.art-9b38e1cfd6d8411fa5820575c3cae96c2022-12-21T21:18:34ZengMashhad University of Medical SciencesIranian Journal of Basic Medical Sciences2008-38662008-38742018-01-0121110811110.22038/ijbms.2017.23207.59089900Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndromeAzam Amirian0Seyed Mohammad Dalili1Zahra Zafari2Siamak Saber3Morteza Karimipour4Vahid Akbari5Amirfarjam Fazelifar6Sirous Zeinali7Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, IranCardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, IranCardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, IranMolecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, IranDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, IranCardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, IranMolecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran|Medical Genetics Laboratory, Kawsar Human Genetics Research Center, No. 41 Majlesi Street, Vali Asr Street, Tehran, IranObjective(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. 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.http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdfArrhythmiaIranJervell and Lange-Nielsen syndromeKCNQ1Long-QT syndromeRomano-Ward syndrome |
| spellingShingle | Azam Amirian Seyed Mohammad Dalili Zahra Zafari Siamak Saber Morteza Karimipour Vahid Akbari Amirfarjam Fazelifar Sirous Zeinali Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome Iranian Journal of Basic Medical Sciences Arrhythmia Iran Jervell and Lange-Nielsen syndrome KCNQ1 Long-QT syndrome Romano-Ward 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 | Arrhythmia Iran Jervell and Lange-Nielsen syndrome KCNQ1 Long-QT syndrome Romano-Ward syndrome |
| url | http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdf |
| work_keys_str_mv | AT azamamirian novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT seyedmohammaddalili novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT zahrazafari novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT siamaksaber novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT mortezakarimipour novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT vahidakbari novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT amirfarjamfazelifar novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome AT sirouszeinali novelframeshiftmutationinthekcnq1generesponsibleforjervellandlangenielsensyndrome |