A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family

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A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family Publisher Pubmed

Taghipoursheshdeh A¹ ; Nematizargaran F¹ ; Zarepour N¹ ; Tahmasebi P² ; Saki N³ ; Tabatabaiefar MA^{4, 5} ; Mohammadiasl J⁶ ; Hashemzadehchaleshtori M¹

Source: Genomics Published:2019

Abstract

Background and aims: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran. Methods: In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel. Results: NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline. Conclusion: NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran. © 2018 Elsevier Inc.

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Style	Citing Format
MLA	Taghipoursheshdeh A, et al.. "A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family." Genomics, vol. 111, no. 4, 2019, pp. 840-848.
APA	Taghipoursheshdeh A, Nematizargaran F, Zarepour N, Tahmasebi P, Saki N, Tabatabaiefar MA, Mohammadiasl J, Hashemzadehchaleshtori M (2019). A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family. Genomics, 111(4), 840-848.
Chicago	Taghipoursheshdeh A, Nematizargaran F, Zarepour N, Tahmasebi P, Saki N, Tabatabaiefar MA, Mohammadiasl J, Hashemzadehchaleshtori M. "A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family." Genomics 111, no. 4 (2019): 840-848.
Harvard	Taghipoursheshdeh A et al. (2019) 'A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family', Genomics, 111(4), pp. 840-848.
Vancouver	Taghipoursheshdeh A, Nematizargaran F, Zarepour N, Tahmasebi P, Saki N, Tabatabaiefar MA, et al.. A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family. Genomics. 2019;111(4):840-848.
BibTex	@article{ author = {Taghipoursheshdeh A and Nematizargaran F and Zarepour N and Tahmasebi P and Saki N and Tabatabaiefar MA and Mohammadiasl J and Hashemzadehchaleshtori M}, title = {A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family}, journal = {Genomics}, volume = {111}, number = {4}, pages = {840-848}, year = {2019} }
RIS	TY - JOUR AU - Taghipoursheshdeh A AU - Nematizargaran F AU - Zarepour N AU - Tahmasebi P AU - Saki N AU - Tabatabaiefar MA AU - Mohammadiasl J AU - Hashemzadehchaleshtori M TI - A Novel Pathogenic Variant in the Marveld2 Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family JO - Genomics VL - 111 IS - 4 SP - 840 EP - 848 PY - 2019 ER -

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