浙江医学2024，Vol.46Issue(15)：1580-1584,1590,6.DOI:10.12056/j.issn.1006-2785.2024.46.15.2024-952
Usher综合征Ⅱ型患儿临床表型及USH2A基因突变分析
Phenotype and USH2A gene mutation in children with Usher syndrome type Ⅱ
摘要
Abstract
Objective To investigate the phenotypes and USH2A gene mutation in children with Usher syndrome type Ⅱ.Methods Clinical data of 3 pediatric patients with Usher syndrome type Ⅱ diagnosed in Women and Children's Hospital Affiliated to Ningbo University from June 2022 to June 2023 were retrospectively analyzed.Whole exome sequencing was used for genetic diagnosis of patients,and Sanger sequencing technique was used to verify the suspected pathogenic mutations in patients and their family members.Results All three patients had mild to moderate hearing loss in both ears,normal vision,and no vestibular reactions.USH2A gene mutation was detected in patient 1:c.8559-2A＞G/c.1964G＞C(p.C655S)complex heterozygous mutation;in patient 2:c.1644+4A＞G/c.187C＞T(p.R63*)complex heterozygous mutation,and in patient 3:c.13877_13880del(p.Q4626Pfs*7)/c.7232A＞C(p.Q2411P)complex heterozygous mutation.Patient 1 and patient 2 were inherited from their parents,while in patient 3 family members did not receive gene tests.According to the American College of Medical Genetics and Genomics guidelines,USH2A gene c.8559-2A＞G,c.187C＞T(p.R63*)and c.13877_13880del(p.Q4626Pfs*7)were rated as pathogenic mutations;USH2A gene c.1644+4A＞G was rated as a possible pathogenic variation;USH2A gene c.1964G＞C(p.C655S)and c.7232A＞C(p.Q2411P)were rated as unknown mutations of clinical significance;while c.1964G＞C(p.C655S)variation was not reported or included in the literature and database.Conclusion USH2A gene complex heterozygous variation may be the cause of deafness in 3 patients.These studies not only enrich the variation spectrum of USH2A gene,but also provide reference for clinical diagnosis.关键词
Usher综合征Ⅱ型/全外显子组测序/USH2A基因/Sanger测序Key words
Usher syndrome type Ⅱ/Whole exome sequencing/USH2A gene/Sanger sequencing引用本文复制引用
潘澍青,潘小莉,鲍幼维,李海波,庄丹燕..Usher综合征Ⅱ型患儿临床表型及USH2A基因突变分析[J].浙江医学,2024,46(15):1580-1584,1590,6.基金项目
浙江省医药卫生科技计划项目(2023KY1121) （2023KY1121）
宁波市科技计划项目(2022S035) （2022S035）
宁波市医疗卫生高端团队重大攻坚项目(2022020405) （2022020405）
宁波市医学重点学科建设项目(2022-F26) （2022-F26）
