Huang Bang-Qing, Zeng Jia-Ling, Yuan Yong-Yi, Dai Pu
Department of Otorhinolaryngology, Hainan Branch of PLA General Hospital, Sanya 572013, China.
Department of Otorhinolaryngology, PLA General Hospital, Beijing 100853, China.
J Otol. 2015 Jun;10(2):78-82. doi: 10.1016/j.joto.2015.09.004. Epub 2015 Sep 30.
Based on the clinical manifestations of a hearing loss patient, the gene was tested for diagnosis of etiology.
A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audiological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband's peripheral blood leukocytes. Polymerase chain reactions (PCR) were performed in the coding sequence of the gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the gene.
The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation (c.530C > A (p.S177X)) in the gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal transcription factor function.
Through analysis of the gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of gene.
根据一名听力损失患者的临床表现，对该基因进行检测以明确病因诊断。
对先证者进行全面体格检查以排除其他器官异常，并进行详细的听力学检测及颞骨CT扫描。采用先证者外周血白细胞提取基因组DNA。在该基因的编码序列中进行聚合酶链反应（PCR）。随后应用直接DNA测序法筛查该基因的整个编码区。
先证者存在重度感音神经性听力损失。颞骨CT显示双侧耳蜗不完全分隔、前庭发育不良、内耳道底扩大，且耳蜗与内耳道底相连。在该患者中发现该基因存在一个新的突变（c.530C＞A（p.S177X）），产生了一个新的终止密码子，预计会导致一种缺乏正常转录因子功能的截短蛋白。
通过对该患者的基因及临床表现分析，我们得出结论，一个新的突变可能导致了提前出现终止密码子，从而导致该基因发生突变。
