Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families
Joint Authors
Li, Qingli
Zuo, Bin
Tang, Wenxue
Zhai, Rongqun
Feng, Haifeng
Liu, Danhua
Tian, Yongan
Liu, Huanfei
Li, Ruijun
Xu, Hongen
Chen, Bei
Lu, Wei
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-12-22
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Objective.
To analyze the phenotypic features and pathogenic variants of three unrelated families presenting with nonsyndromic auditory neuropathy spectrum disorder (ANSD).
Methods.
Three recruited families that were affected by congenital deafness were clinically evaluated, including a detailed family history and audiological and radiological examination.
The peripheral blood of all patients and their parents was collected for DNA extraction, and then, the exonic and flanking regions were enriched and sequenced using targeted capture and high-throughput sequencing technology.
Bioinformatics analyses and the Sanger sequencing were carried out to screen and validate candidate pathogenic variants.
The pathogenicity of candidate variants was evaluated by an approach that was based on the standards and guidelines for interpreting genetic variants as proposed by the American College of Medical Genetics and Genomics (ACMG).
Results.
Four patients in three families were diagnosed as nonsyndromic ANSD, and all exhibited OTOF gene mutations.
Among them, two individuals in family 1 (i.e., fam 1-II-2 and fam 1-II-3) carried homozygous variants c.[2688del];[2688del] (NM_194248.3).
Two individuals from family 2 (fam 2-II-1) and family 3 (fam 3-II-4) carried compound heterozygous variants c.[4960G>A];[1469C>G] and c.[2675A>G];[2977_2978del], respectively.
Conclusions.
Three unrelated pedigrees with ANSD were caused by pathogenic variants in the OTOF gene.
Five mutations were found and included c.2688del, c.2675A>G, c.2977_2978del, c.4960G>A, and c.1469C>G, of which the first two are novel and expanded mutational spectrum of the OTOF gene, thus having important implications for genetic counseling of the family.
American Psychological Association (APA)
Zhai, Rongqun& Feng, Haifeng& Li, Qingli& Lu, Wei& Liu, Danhua& Tian, Yongan…[et al.]. 2020. Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families. BioMed Research International،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1137737
Modern Language Association (MLA)
Zhai, Rongqun…[et al.]. Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families. BioMed Research International No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1137737
American Medical Association (AMA)
Zhai, Rongqun& Feng, Haifeng& Li, Qingli& Lu, Wei& Liu, Danhua& Tian, Yongan…[et al.]. Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1137737
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1137737