Article
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2023
Barbier Mathieu, Davoine Claire-Sophie, Petit Emilien, Porché Maximilien, Guillot-Noel Léna, Sayah Sabrina, Fauret Anne-Laure, Neau Jean-Philippe, Guyant-Maréchal Lucie, Deffond Didier, Tranchant Christine, Goizet Cyril, Coarelli Giulia, Castrioto Anna, Klebe Stephan, Ewenczyk Claire, Heinzmann Anna, Charles Perrine, Tchikviladzé Maya, Van Broeckhoven Christine, Brice Alexis, Durr Alexandra
Abstract excerpt
PURPOSE: CAG/CAA repeat expansions in TBP>49 are responsible for spinocerebellar ataxia (SCA) type 17 (SCA17). We previously detected cosegregation of STUB1 variants causing SCA48 with intermediate alleles of TBP in 2 families. This cosegregation questions the existence of SCA48 as a monogenic disease. METHODS: We systematically sequenced TBP repeats in 34 probands of dominant ataxia families with STUB1 variants....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.