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

BioMed Research International

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

Medicine

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