Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing

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Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing Publisher Pubmed

Zarepour N¹ ; Koohiyan M² ; Taghipoursheshdeh A¹ ; Nematizargaran F¹ ; Saki N³ ; Mohammadiasl J⁴ ; Tabatabaiefar MA^{5, 6} ; Hashemzadehchaleshtori M¹

Source: Audiology and Neurotology Published:2019

Abstract

Background and Objectives: Hereditary hearing loss (HL) is known by a very high genetic heterogeneity, which makes a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Method: A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in the family with 3 affected members. After excluding mutations in the GJB2 and 7 other most common autosomal recessive nonsyndromic HL genes via Sanger sequencing and genetic linkage analysis in the family, we applied the Otogenetics deafness NGS panel in the proband of this family. Results: NGS results showed a novel rare variant (c.7720C>T) in the MYO15A gene. This nonsense variant in the exon 40 of the MYO15A gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics guideline. Conclusions: New DNA sequencing technologies could lead to identification of the disease causing variants in highly heterogeneous disorders such as HL. © 2019 S. Karger AG, Basel

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Style	Citing Format
MLA	Zarepour N, et al.. "Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing." Audiology and Neurotology, vol. 24, no. 1, 2019, pp. 25-31.
APA	Zarepour N, Koohiyan M, Taghipoursheshdeh A, Nematizargaran F, Saki N, Mohammadiasl J, Tabatabaiefar MA, Hashemzadehchaleshtori M (2019). Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing. Audiology and Neurotology, 24(1), 25-31.
Chicago	Zarepour N, Koohiyan M, Taghipoursheshdeh A, Nematizargaran F, Saki N, Mohammadiasl J, Tabatabaiefar MA, Hashemzadehchaleshtori M. "Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing." Audiology and Neurotology 24, no. 1 (2019): 25-31.
Harvard	Zarepour N et al. (2019) 'Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing', Audiology and Neurotology, 24(1), pp. 25-31.
Vancouver	Zarepour N, Koohiyan M, Taghipoursheshdeh A, Nematizargaran F, Saki N, Mohammadiasl J, et al.. Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing. Audiology and Neurotology. 2019;24(1):25-31.
BibTex	@article{ author = {Zarepour N and Koohiyan M and Taghipoursheshdeh A and Nematizargaran F and Saki N and Mohammadiasl J and Tabatabaiefar MA and Hashemzadehchaleshtori M}, title = {Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing}, journal = {Audiology and Neurotology}, volume = {24}, number = {1}, pages = {25-31}, year = {2019} }
RIS	TY - JOUR AU - Zarepour N AU - Koohiyan M AU - Taghipoursheshdeh A AU - Nematizargaran F AU - Saki N AU - Mohammadiasl J AU - Tabatabaiefar MA AU - Hashemzadehchaleshtori M TI - Identification and Clinical Implications of a Novel Myo15a Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing JO - Audiology and Neurotology VL - 24 IS - 1 SP - 25 EP - 31 PY - 2019 ER -

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