Analysis of Clinical Phenotype and Pathogenic Variations in Two Families with Branchio-oto Syndrome
10.3969/j.issn.1006-7299.2024.03.003
- VernacularTitle:两个鳃耳综合征家系的临床表型及致病变异分析
- Author:
Wanli HE
1
;
Hong'en XU
;
Mengli LIU
;
Teng ZHANG
;
Shuping SUN
;
Wei LU
Author Information
1. 郑州大学第一附属医院耳鼻喉医院耳科(郑州 450052)
- Keywords:
Branchio-oto-renal syndrome;
EYA1 gene;
Genetic variation
- From:
Journal of Audiology and Speech Pathology
2024;32(3):206-211
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the causes of two Chinese families with Branchio-oto syndrome.Methods The clinical data of two families were collected,and the pathogenic genes and variants of Branchio-oto syndrome were screened and verified by whole exome sequencing and Sanger sequencing.Results Two proband patients were diagnosed with Branchio-oto syndrome.Proband 1 presented with preauricular and anterior cervical fistulas,as well as congenital severe sensorineural hearing loss.On the other hand,proband 2 displayed a preauricular fistula and an anterior cervical cyst.At the age of 5,progressive deterioration of binaural hearing was observed,leadingtothe cur-rent diagnosis of severe mixed deafness.Genetic analysis showed that proband 1 and 2 carried nonsense variants of EYA1 gene:NM_000503.6:c.1408G＞T(p.Glu470Ter),and c.889C＞T(p.Arg297Ter).According to the guide-lines of the American College of Medical Genetics and Genomics(ACMG),the above variants were rated as patho-genic variants.After reviewing the literature,the c.1408G＞T variant had not been previously reported,and the c.889C＞T is a known variant.Conclusion The variants c.1408G＞T(p.Glu470Ter)and c.889C＞T(p.Arg297Ter)of EYA1 gene are the cause of these two families with Branchio-oto syndrome.The first report of c.1408G＞T broadens the mutational spectrum of EYA1 gene and provids a clinical reference for the diagnosis of Branchio-oto syndrome.
