A single nucleotide substitution T to A in the poly-pyrimidine stretch at splice acceptor site of intron 9 causes exon 10 skipping in ACAT1 gene
BACKGROUND β‐ketothiolase (T2, gene symbol _ACAT1_) deficiency is an autosomal recessive disorder, affecting isoleucine and ketone body metabolism. We encountered a patient (GK03) with T2 deficiency whose T2 mRNA level was A in the polypyrimidine stretch at the splice acceptor site of intron 9 of _ACAT1_. Initially, we regarded this variant as not being disease‐causing by a method of predicting ... Read more