Dataset Information

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

ABSTRACT: A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL. The detailed clinical features in patients with POU4F3 variants were collected from medical charts and analyzed. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant HL, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown HL. To obtain the audiovestibular configuration of the patients harboring POU4F3 variants, we collected audiograms and vestibular symptoms of the probands and their affected family members. Audiovestibular phenotypes in a total of 24 individuals from the 15 families possessing variants were characterized by progressive HL, with a large variation in the onset age and severity with or without vestibular symptoms observed. Pure-tone audiograms indicated the most prevalent configuration as mid-frequency HL type followed by high-frequency HL type, with asymmetry observed in approximately 20% of affected individuals. Analysis of the relationship between age and pure-tone average suggested that individuals with truncating variants showed earlier onset and slower progression of HL than did those with non-truncating variants. The present study showed that variants in POU4F3 were a common cause of autosomal dominant HL.

SUBMITTER: Kitano T

PROVIDER: S-EPMC5435223 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

Kitano Tomohiro T Miyagawa Maiko M Nishio Shin-Ya SY Moteki Hideaki H Oda Kiyoshi K Ohyama Kenji K Miyazaki Hiromitsu H Hidaka Hiroshi H Nakamura Ken-Ichi KI Murata Takaaki T Matsuoka Rina R Ohta Yoko Y Nishiyama Nobuhiro N Kumakawa Kozo K Furutate Sakiko S Iwasaki Satoshi S Yamada Takechiyo T Ohta Yumi Y Uehara Natsumi N Noguchi Yoshihiro Y Usami Shin-Ichi SI

PloS one 20170517 5

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA ...[more]

PMID: 28545070

Dataset Information

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

Publications

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

A Novel Nonsense Mutation of <i>POU4F3</i> Gene Causes Autosomal Dominant Hearing Loss.
| S-EPMC5143711 | biostudies-literature

Four Novel Variants in <i>POU4F3</i> Cause Autosomal Dominant Nonsyndromic Hearing Loss.
| S-EPMC7349627 | biostudies-literature

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
| S-EPMC6522017 | biostudies-literature

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
| S-EPMC4267685 | biostudies-literature

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
| S-EPMC3832514 | biostudies-literature

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
| S-EPMC5846739 | biostudies-literature

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
| S-EPMC7299729 | biostudies-literature

Mutation in the Hair Cell Specific Gene <i>POU4F3</i> Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.
| S-EPMC5178374 | biostudies-literature

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.
| S-EPMC5548901 | biostudies-literature

A Missense <i>POU4F3</i> Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
| S-EPMC8238589 | biostudies-literature