Article
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Clinical genetics - 1 Mar 2022
Canpolat Nur, Liu Dingxiao, Atayar Emine, Saygili Seha, Kara Nazli Sila, Westfall Trudi A, Ding Qiong, Brown Bartley J, Braun Terry A, Slusarski Diane, Karli Oguz Kader, Ozluk Yasemin, Tuysuz Beyhan, Tastemel Ozturk Tugba, Sever Lale, Sezerman Osman Ugur, Topaloglu Rezan, Caliskan Salim, Attanasio Massimo, Ozaltin Fatih
Abstract excerpt
Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the pons, microcephaly, dysmorphisms, and other variable clinical features. Here, we report an intronic recessive founder variant in the gene TSEN2 that results in...
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