SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys  

作　　者：Yi Wang Lijun Fan Xiaoya Ren Yanning Song Beibei Zhang Chunxiu Gong 

机构地区：[1]Department of Endocrinology,Genetics and Metabolism,Beijing Children’s Hospital,Capital Medical University,Beijing 100045,China [2]National Medical Center for Children’s Health,Beijing 100045,China

出　　处：《Chinese Medical Journal》2022年第4期477-479,共3页中华医学杂志（英文版）

基　　金：This study was supported by The Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority(No.XTYB201808);the Public Health Project for Residents in Beijing(No.Z151100003915103);the National Key Research and Development Program of China(No.2016YFC0901505)。

摘　　要：To the Editor:The SRY-related high-mobility-group-box protein-2(SOX2)is most notably expressed in the eye,placodes,forebrain,and hypothalamus-pituitary and is involved in early embryonic development.[1]Loss-of-function mutations or deletions in SOX2 could lead to uni-or bi-lateral anophthalmia/microphthalmia(A/M)as well as other related disorders,such as anophthalmia/esophageal-genital syndrome.An increasing number of studies have found that SOX2 mutations can cause variable extraocular symptoms,including growth retardation,sensorineural hearing loss,mental retardation,no pubertal signs,and male genitourinary tract malformations(micropenis,cryptorchidism,and hypospadias).Indeed,cases with SOX2 pathogenic mutations but no or minor ocular symptoms have been reported less frequently.Several studies found that SOX2 heterozygous mutations cause typical signs of complete hypogonadism without major ocular malformations in men or women,such as isolated hypogonadotropic hypogonadism(HH),but no other HH pathogenic gene was identified.[2,3]Therefore,our study is the first to report the cases of three Chinese patients with SOX2 mutations referred due to micropenis and/or cryptorchidism combined with craniofacial deformities or intellectual disability.

关 键 词：SOX2 OCULAR URINARY 

分 类 号：R725.9[医药卫生—儿科]