Department of Otolaryngology Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin, China.
Medicine (Baltimore). 2024 Sep 13;103(37):e39360. doi: 10.1097/MD.0000000000039360.
Deafness is associated with both environmental and genetic factors, with hereditary deafness often caused by mutations in deafness-related genes. Identifying and analyzing deafness-related genes will aid in early diagnosis and pave the way for treating inherited deafness through gene therapy in the future.
A 15-month-old girl underwent audiological examination at the outpatient clinic of the hospital due to hearing loss and her brother was diagnosed with profound bilateral sensorineural hearing loss at the age of 3.
The diagnosis was determined as extremely severe sensorineural hearing loss caused by genetic factors.
Clinical data of the patient were collected, and peripheral blood samples were obtained from both the patient and her family members for DNA extraction and sequencing.
By utilizing targeted capture next-generation sequencing to further screen for deafness-related genes, 2 novel variants in CDH23 were identified as the causative factors for the patient's deafness.
This study identified 2 novel heterozygous mutations in a Chinese family. Both the proband and her sibling have non-syndromic hearing loss (NSHL) and carry distinct heterozygous mutations of cadherin-like 23 (CDH23). One mutation, CDH23:c.2651 A>G, originated from their mother and paternal family, affecting the exon23 domain of CDH23. The other mutation, CDH23:c.2113 G>T, was inherited from their paternal grandmother, impacting the exon19 domain of CDH23. These 2 novel mutations likely cause NSHL by affecting protein function. This finding suggests that identifying 2 novel mutations in CDH23 contributes to the genetic basis of NSHL.
耳聋与环境和遗传因素有关，遗传性耳聋常由耳聋相关基因的突变引起。鉴定和分析耳聋相关基因将有助于早期诊断，并为未来通过基因治疗治疗遗传性耳聋铺平道路。
一名 15 个月大的女孩因听力损失在医院门诊进行了听力学检查，其哥哥在 3 岁时被诊断为双侧重度感音神经性听力损失。
诊断为遗传性极重度感音神经性听力损失。
收集患者的临床资料，从患者及其家属中采集外周血样进行 DNA 提取和测序。
通过利用靶向捕获二代测序技术进一步筛选耳聋相关基因，在 CDH23 中发现了 2 个新的变异体，认为是该患者耳聋的致病因素。
本研究在中国一个家庭中鉴定出 2 个新的杂合突变。先证者及其同胞均患有非综合征性听力损失（NSHL），并携带 cadherin-like 23（CDH23）的不同杂合突变。一个突变，CDH23:c.2651 A>G，来源于其母亲和父系家族，影响 CDH23 的外显子 23 域。另一个突变，CDH23:c.2113 G>T，来自其父亲的祖母，影响 CDH23 的外显子 19 域。这 2 个新的突变可能通过影响蛋白功能导致 NSHL。这一发现表明，在 CDH23 中鉴定出 2 个新突变有助于阐明 NSHL 的遗传基础。
