Zhao Xuxu, Huan Chi, Bai Yan, Lu Yu, Xiong Wenyu, Kang Houyong, Zhang Cheng
Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Department of Otolaryngology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing Engineering Research Center of Stem Cell Therapy, Children's Hospital of Chongqing Medical University, Chongqing, China.
Front Pediatr. 2025 Apr 23;13:1514369. doi: 10.3389/fped.2025.1514369. eCollection 2025.
This study aims to analyze a genetic family with the gene c.551G>A (p.R184Q) variant, exploring the relationship between its genotype and clinical phenotype, and summarizing the inheritance pattern and clinical features associated with this locus.
Detailed medical history collection and physical examinations were conducted for the proband and their family members. Audiological assessments and genetic sequencing analyses were performed on some members. Additionally, a review of existing literature concerning GJB2 c.551G>A (p.R184Q) was conducted.
The proband, along with their father and paternal grandmother, carried the heterozygous mutation GJB2 c.551G>A, all exhibiting moderate to profound bilateral prelingual sensorineural deafness. Notably, the proband also presented symptoms of skin dryness and nail abnormalities characteristic of syndromic hearing loss.
The GJB2 c.551G>A mutation not only leads to severe hearing loss but may also be associated with syndromic hearing loss, expanding our understanding of the clinical spectrum associated with this variant.
本研究旨在分析一个携带基因c.551G>A（p.R184Q）变异的遗传家系，探索其基因型与临床表型之间的关系，并总结与该位点相关的遗传模式和临床特征。
对先证者及其家庭成员进行详细的病史采集和体格检查。对部分成员进行听力学评估和基因测序分析。此外，还对有关GJB2 c.551G>A（p.R184Q）的现有文献进行了综述。
先证者及其父亲和祖母携带杂合突变GJB2 c.551G>A，均表现为中度至重度双侧语前感音神经性耳聋。值得注意的是，先证者还出现了综合征性听力损失特有的皮肤干燥和指甲异常症状。
GJB2 c.551G>A突变不仅导致严重听力损失，还可能与综合征性听力损失有关，扩展了我们对与该变异相关的临床谱的认识。
