机构：[1]Department of Ophthalmology, Peking University People's Hospital, Beijing, China.[2]Eye Diseases and Optometry Institute, Beijing, China.[3]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China.
Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome.We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a WFS1 variant (chr4-6302385 exon8 NM_006005.3: c.2590G > A, p. Glu864Lys).Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn't been a definite treatment yet. Early identification of the variant in the WFS1 gene is beneficial for genetic counseling.
基金：
This work was supported by the Beijing Municipal Natural
Science Foundation, (grant number NO.7232192).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2023]版：
大类|4 区医学
小类|4 区眼科学
最新[2023]版：
大类|4 区医学
小类|4 区眼科学
第一作者：
第一作者机构：[1]Department of Ophthalmology, Peking University People's Hospital, Beijing, China.[2]Eye Diseases and Optometry Institute, Beijing, China.[3]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China.
通讯作者：
通讯机构：[1]Department of Ophthalmology, Peking University People's Hospital, Beijing, China.[2]Eye Diseases and Optometry Institute, Beijing, China.[3]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China.
推荐引用方式(GB/T 7714)：
Li Siying,Li Xiaoxin,Qu Jinfeng.A Wolfram-like syndrome family: Case report[J].European Journal Of Ophthalmology.2024,11206721241237552.doi:10.1177/11206721241237552.
APA：
Li Siying,Li Xiaoxin&Qu Jinfeng.(2024).A Wolfram-like syndrome family: Case report.European Journal Of Ophthalmology,,
MLA：
Li Siying,et al."A Wolfram-like syndrome family: Case report".European Journal Of Ophthalmology .(2024):11206721241237552
