Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

Qiang Du; Qin Sun; Xiaodong Gu; Jinchao Wang; Weitao Li; Luo Guo; Huawei Li

doi:10.1186/s12920-022-01289-7

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

BMC Med Genomics. 2022 Jun 17;15(1):135. doi: 10.1186/s12920-022-01289-7.

Authors

Qiang Du^#^{1

2}, Qin Sun^#^{1

2}, Xiaodong Gu^#^{1

2}, Jinchao Wang³, Weitao Li^{1

2}, Luo Guo^{4

5}, Huawei Li^{6

7

8

9

10}

Affiliations

¹ Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, No. 83, Fenyang Road, Shanghai, 200031, China.
² NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China.
³ Department of Otorhinolaryngology, Huizhou Municipal Central Hospital, Huizhou, 516002, Guangdong, China.
⁴ Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, No. 83, Fenyang Road, Shanghai, 200031, China. guoluo.gary@foxmail.com.
⁵ NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China. guoluo.gary@foxmail.com.
⁶ Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, No. 83, Fenyang Road, Shanghai, 200031, China. hwli@shmu.edu.cn.
⁷ Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China. hwli@shmu.edu.cn.
⁸ NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China. hwli@shmu.edu.cn.
⁹ Shanghai Engineering Research Centre of Cochlear Implant, Shanghai, 200031, China. hwli@shmu.edu.cn.
¹⁰ The Institutes of Brain Science and the Collaborative Innovation Center for Brain Science, Fudan University, Shanghai, 200032, China. hwli@shmu.edu.cn.

^# Contributed equally.

Abstract

Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with prelingual sensorineural hearing loss was investigated. The affected individuals showed moderately severe hearing loss at all frequencies. Using target genome enrichment and high-throughput sequencing, the homozygous variant c.2372del; p.(Ser791fs) was identified in PDZD7. This variant lies in exon 15 of PDZD7 and results in a frame shift followed by an early stop codon. It is classified as pathogenic according to the ACMG/AMP guidelines and ClinGen specifications. Our study expands the pathogenic variant spectrum of PDZD7 and strengthens the clinical importance of this gene in patients with moderately severe hearing loss.

Keywords: Hearing loss; PDZD7; Variant.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Carrier Proteins* / genetics
Deafness* / genetics
Hearing Loss* / genetics
Hearing Loss, Sensorineural* / genetics
Humans
Mutation
Pedigree

Substances

Carrier Proteins
PDZD7 protein, human

Supplementary concepts

Nonsyndromic sensorineural hearing loss