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Article

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.

Orphanet journal of rare diseases - 21 Feb 2022

Chen Ying, Qiu Jiajun, Wu Yingwei, Jia Huan, Jiang Yi, Jiang Mengda, Wang Zhili, Sheng Hai-Bin, Hu Lingxiang, Zhang Zhihua, Wang Zhaoyan, Li Yun, Huang Zhiwu, Wu Hao

Abstract excerpt

BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical characteristics and molecular findings in IP-III patients by Sanger or nanopore single-molecule sequencing. METHODS: Diagnosis of IP-III was mainly based on clinical characteristics including...

Topics

Hearing Loss
Hearing Loss, Sensorineural
Humans
Male
Mutation
Nanopore Sequencing
Nanopores
POU Domain Factors

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35189936
DOI: 10.1186/s13023-022-02235-7
PMCID: PMC8862311

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