Zheng Zhoushu, Yan Lulu, Ding Lu, Zhang Yinghui, Wang Meihong, Yang Yihui, Wu Junhua, Chen Changshui, Tang Ming, Li Haibo
Department of Otolaryngology Head and Neck Surgery, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.
Appl Clin Genet. 2024 Nov 8;17:171-186. doi: 10.2147/TACG.S472898. eCollection 2024.
Syndromic hearing loss (SHL) is characterized by distinctive clinical phenotypes as well as genetic and phenotypic heterogeneity. More than 400 species of SHL have been described, the majority of which are autosomal dominant.
11 forms of SHL were obtained from 14 unrelated families with probands ranging in age from 5 to 78 months. The results of whole exome sequencing(WES), audiological characteristics, middle and inner ear radiological findings, and additional clinical phenotype characteristics were retrospectively analyzed.
Fourteen people with SHL were found. Two of them had Waardenburg syndrome, two had Branchio-Oto-Renal syndrome, two had CHARGE syndrome, and one had Treacher Collins syndrome, Kleefstra syndrome, Muenke syndrome, Osteopathia Striata with Cranial Sclerosis, Ayme-Gripp syndrome, Tatton-Brown-Rahman syndrome, Stickler syndrome, or Stapes Ankylosis with Broad Thumbs and Toes. In this investigation, ten variants were first reported.
The combination of a neonatal hearing screening and WES can diagnose syndrome-type hearing loss in infancy and childhood, according to our findings, expansion of the gene variant spectrum and phenotype for various age groups of SHL is essential and can provide valuable guidelines for clinical intervention decisions. It is imperative for medical practitioners to conduct diligent and prolonged patient monitoring due to the inherent variability in both the auditory impairment and the comprehensive clinical manifestation of SHL.
综合征性听力损失（SHL）具有独特的临床表型以及遗传和表型异质性。已描述的SHL有400多种，其中大多数为常染色体显性遗传。
从14个无关家庭中获取了11种SHL病例，先证者年龄在5至78个月之间。对全外显子组测序（WES）结果、听力学特征、中耳和内耳影像学检查结果以及其他临床表型特征进行了回顾性分析。
共发现14例SHL患者。其中2例患有瓦登伯革氏综合征，2例患有鳃-耳-肾综合征，2例患有CHARGE综合征，1例患有特雷彻·柯林斯综合征、克莱夫斯特拉综合征、蒙克综合征、颅骨硬化性骨纹症、艾梅-格里普综合征、塔顿-布朗-拉赫曼综合征、斯蒂克勒综合征或伴有宽拇指和宽脚趾的镫骨强直。在本研究中，首次报告了10种变异。
根据我们的研究结果，新生儿听力筛查和WES相结合可在婴幼儿期诊断综合征型听力损失，扩大SHL各年龄组的基因变异谱和表型对于临床干预决策至关重要，可为其提供有价值的指导。由于SHL的听觉损伤和综合临床表现存在内在变异性，医生必须对患者进行认真且长期的监测。
