Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

AMIRIAN AZAM; Dalili Seyed Mohammad; ZAFARI ZAHRA; SABER SIAMAK; KARIMIPOOR MORTEZA; akbari Vahid; Farjam Fazelifar Amir; ZEINALI SIROUS

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Iranian Journal of Basic Medical Sciences Year:2018 | Volume:21 | Issue:1 Page(s): 108-111

Download Full-Text

View:

249

Download:

143

Cites:

Information Journal Paper

Title

Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

Author(s)

Keywords

Arrhythmia

Iran

Jervell and Lange-Nielsen-syndrome

KCNQ1

Long-QT syndrome

Romano-Ward syndrome

Abstract

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.

Cites

No record.

References

FIRST REPORT ON THE CO-INHERITANCE OF BETA-GLOBIN IVS-I-5 (G®C) THALASSEMIA WITH DELTA GLOBIN CD12 {ASN®LYS (AAT®AAA)} HBA2- NYU IN IRAN

Cite

APA: Copy

AMIRIAN, AZAM, Dalili, Seyed Mohammad, ZAFARI, ZAHRA, SABER, SIAMAK, KARIMIPOOR, MORTEZA, akbari, Vahid, Farjam Fazelifar, Amir, & ZEINALI, SIROUS. (2018). Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 21(1), 108-111. SID. https://sid.ir/paper/722772/en

Vancouver: Copy

AMIRIAN AZAM, Dalili Seyed Mohammad, ZAFARI ZAHRA, SABER SIAMAK, KARIMIPOOR MORTEZA, akbari Vahid, Farjam Fazelifar Amir, ZEINALI SIROUS. Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES[Internet]. 2018;21(1):108-111. Available from: https://sid.ir/paper/722772/en

IEEE: Copy

AZAM AMIRIAN, Seyed Mohammad Dalili, ZAHRA ZAFARI, SIAMAK SABER, MORTEZA KARIMIPOOR, Vahid akbari, Amir Farjam Fazelifar, and SIROUS ZEINALI, “Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome,” IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, vol. 21, no. 1, pp. 108–111, 2018, [Online]. Available: https://sid.ir/paper/722772/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops