Article
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
American journal of medical genetics. Part A - 1 Aug 2023
Sage Adam P, Lee Hyun Kyung, Dalmann Joshua, Lin Susan, Samra Simran, Salman Areesha, Del Bel Kate L, Li Wenhui Laura, Lehman Anna, Turvey Stuart E, Boerkoel Cornelius F, Richmond Phillip A
Abstract excerpt
Tandem splice acceptors (NAGNn AG) are a common mechanism of alternative splicing, but variants that are likely to generate or to disrupt tandem splice sites have rarely been reported as disease causing. We identify a pathogenic intron 23 CLTC variant (NM_004859.4:c.[3766-13_3766-5del];[=]) in a propositus with intellectual disability and behavioral problems. By RNAseq analysis of peripheral blood mRNA, this...
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