Clinical and Genetic Characteristics of a Chinese Family with Branchio-Otic Syndrome
ZOU Mingzhen
ZHU Hongmei
WEI Qinjun
CHEN Zhibin
CAO Xin
XING Guangqian
Abstract：Objective To investigate the phenotypic manifestations of branchio-otic syndrome in a Chinese family, and to search for candidate mutational genes. Methods After obtaining informed consent from the participants, medical and audio?logical examinations as well as CT scan of the temporal bone were performed. The inheritance mode in the family was evaluat?ed. Genomic DNA was isolated from peripheral leukocytes using the Puregene DNA Isolation Kits. DNA fragments spanning the whole coding regions of EYA1, SIX1 and SIX5 genes were PCR amplified and directly sequenced. Results The family had 31 members in 4 generations, of whom 7 were affected. The mode of inheritance in the family was consistent with the autosomal dominant pattern according to pedigree analysis. Hearing loss was the most common manifestation occurring in 6 patients. Oth?er findings included preauricular pits (n=2), cervical fistulas (n=3) and abnormal pinnae (n=4). None of the affected subjects had renal anomalies. In two patients evaluated by pure-tone audiometry and temporal bone imaging, bilateral mixed hearing loss as well as middle ear and inner ear deformities were found. Mutational analysis of candidate genes in the selected patients identified a nonsense EYA1 mutation c.922C>T. Conclusions Phenotypic manifestations in this Chinese family suggest the di?agnosis of branchio-otic syndrome, although the penetrance is variable within patients. The EYA1 c.922C>T mutation is the main genetic basis underlying the disease.
Keywords：Hereditary hearing lossBranchio-oto-renal syndromeGene mutation
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 106-109 )