Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family-Reference-Cited by-同舟云学术

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Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family

Published:2020-11 Issue: Volume:138 Page:110202
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Xing Zhan-Kui,Wang Su-Yang,Xia Xin,Ding Wen-Juan,Duan Lei,Cui Xiao,Xu Bai-Cheng,Zhu Yi-Ming,Liu Xiao-Wen

Funder

Health and Family Planning Commission of Gansu

Gansu Science and Technology Department

Lanzhou University

National Natural Science Foundation of China

Lanzhou Science and Technology Bureau

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome;Kemperman;Int. J. Audiol.,2004

2. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum. Mutat.,2004

3. Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss;Fraser;Am. J. Med. Genet.,1980

4. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations;Krug;Hum. Mutat.,2011

5. Eya protein phosphatase activity regulates Six1–Dach–Eya transcriptional effects in mammalian organogenesis;Li;Nature,2003

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1. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms;BMC Medical Genomics;2024-04-16

2. Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction;Frontiers in Genetics;2024-01-08

3. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17

4. The role of genetic factors in microtia: A systematic review;F1000Research;2023-04-26

5. A novel mutation of the EYA1 gene in a branchio-otic syndrome child with secretory otitis media and bilateral vestibular weakness;2023-02-08

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