Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7  

作　　者：Aijun Yang Xiaoli Kong Qin Wang Runqing Miao Haixiang Ma Anzhuo Chu Zhengtong Wang Jiaqing Lu Bo Liu Bingcheng Mu Runhan Guo Jiayi Li Xiaoxiao Gongye Huabao Xiong Tao Zhong 

机构地区：[1]Jining Medical University,Jining,Shandong 272067,China [2]The University of Manchester,Oxford Rd,Manchester M139PL,UK

出　　处：《Genes & Diseases》2025年第1期151-154,共4页基因与疾病(英文)

基　　金：supported by grants from the National Natural Science Foundation of China(No.82171810);the Program of Shandong Provincial TCM Sci-Tech Project(M-2023210).

摘　　要：Pontocerebellar hypoplasia type 7(PCH7)(OMIM#614969)stands as a rare and severe neurodegenerative syndrome marked by distinct characteristics,including neurological decline,hypoplasia in the pons and cerebellum,muscle hypotonia,"irregular breathing,and hypogonadism.1 Furthermore,individuals with 46,XY karyotypes display feminine genitalia,whereas those with 46,XX karyotypes exhibit atrophic ovaries and lack menarche in PCH7 patients.2 Recent investigations have pinpointed variants in the EGR1 protein 1_gene(TOE1)as the genetic culprits behind PCH7 onset.3 TOE1 primarily situated within the Cajal bodies of the nucleus has been identified.In this cellular compartment,TOE1 functions as a 3-exonuclease,aiding in the maturation of small nuclear RNAs(snRNAs)and the processing of snRNA 3'-tails.4 Disruptions in snRNA processing may contribute to severe neurodegenerative disorders.

关 键 词：situated RARE pointed 

分 类 号：Q95[生物学—动物学]