THE FIRST CASE OF NSHL BY DIRECT IMPRESSION ON EYA1 GENE AND IDENTIFICATION OF ONE NOVEL MUTATION IN MYO7A IN THE IRANIAN FAMILIES

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.

RAZMARA EHSAN; BITARAFAN FATEMEH; ESMAEILZADEH GHAREHDAGHI ELIKA; ALMADANI NAVID; GARSHASBI MASOUD

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:3 Page(s): 333-341

Download Full-Text

View:

252

Download:

419

Cites:

Information Journal Paper

Title

THE FIRST CASE OF NSHL BY DIRECT IMPRESSION ON EYA1 GENE AND IDENTIFICATION OF ONE NOVEL MUTATION IN MYO7A IN THE IRANIAN FAMILIES

Author(s)

Keywords

EYA1

MUTATION

MYO7A

MYTH4

NSHL

Abstract

Objective (s): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of MUTATIONs in these genes to the autosomal recessive/dominant non-syndromic genetic load among Iranian families.Materials and Methods: Two families were involved in this research and two patients were examined by targeted next-generation sequencing. Here we report two novel MUTATIONs in the MYO7A and EYA1 genes in two patients detected by targeted NGS. They were confirmed by Sanger sequencing and quantitative real-time PCR techniques.Results: In this investigation, we identified a novel MUTATION in MYO7A, c.3751G>C, p.A1251P, along with another previously identified MUTATION (c.1708C>T) in one of the cases. This MUTATION is located in the MYTH4 protein domain which is a pivotal domain for the myosin function. Another finding in this research was a novel de-novo deletion which deletes the entire EYA1 coding region (EX1-18 DEL). MUTATIONs in EYA1 gene have been found in branchiootorenal (BOR) syndrome. Interestingly the patient with EYA1 deletion did not show any other additional clinical implications apart from HL. This finding might argue for the sole involvement of EYA1 function in the mechanism of hearing.Conclusion: This investigation exhibited that the novel MUTATIONs in MYO7A, c.3751G>C, p.A1251P, and EYA1, EX1-18 DEL, were associated with NSHL. Our research increased the MUTATION spectrum of hearing loss in the Iranian population.

Cites

No record.

References

No record.

Cite

APA: Copy

RAZMARA, EHSAN, BITARAFAN, FATEMEH, ESMAEILZADEH GHAREHDAGHI, ELIKA, ALMADANI, NAVID, & GARSHASBI, MASOUD. (2018). THE FIRST CASE OF NSHL BY DIRECT IMPRESSION ON EYA1 GENE AND IDENTIFICATION OF ONE NOVEL MUTATION IN MYO7A IN THE IRANIAN FAMILIES. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 21(3), 333-341. SID. https://sid.ir/paper/712207/en

Vancouver: Copy

RAZMARA EHSAN, BITARAFAN FATEMEH, ESMAEILZADEH GHAREHDAGHI ELIKA, ALMADANI NAVID, GARSHASBI MASOUD. THE FIRST CASE OF NSHL BY DIRECT IMPRESSION ON EYA1 GENE AND IDENTIFICATION OF ONE NOVEL MUTATION IN MYO7A IN THE IRANIAN FAMILIES. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES[Internet]. 2018;21(3):333-341. Available from: https://sid.ir/paper/712207/en

IEEE: Copy

EHSAN RAZMARA, FATEMEH BITARAFAN, ELIKA ESMAEILZADEH GHAREHDAGHI, NAVID ALMADANI, and MASOUD GARSHASBI, “THE FIRST CASE OF NSHL BY DIRECT IMPRESSION ON EYA1 GENE AND IDENTIFICATION OF ONE NOVEL MUTATION IN MYO7A IN THE IRANIAN FAMILIES,” IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, vol. 21, no. 3, pp. 333–341, 2018, [Online]. Available: https://sid.ir/paper/712207/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops