Ontology highlight
ABSTRACT:
SUBMITTER: Leduc CA
PROVIDER: S-EPMC3897795 | biostudies-other | 2014
REPOSITORIES: biostudies-other
Leduc Charles A CA Crouch Elizabeth E EE Wilson Ashley A Lefkowitch Jay J Wamelink Mirjam M C MM Jakobs Cornelis C Salomons Gajja S GS Sun Xiaoyun X Shen Yufeng Y Chung Wendy K WK
JIMD reports 20131006
We evaluated a family with a 16-month-old boy with cirrhosis and hepatocellular carcinoma and his 30-month-old brother with cirrhosis. After failing to identify a diagnosis after routine metabolic evaluation, we utilized a combination of RNA-Seq and whole exome sequencing to identify a novel homozygous p.Ser171Phe Transaldolase (TALDO1) variant in the proband, his brother with cirrhosis, as well as a clinically asymptomatic older 8-year-old brother. Metabolite analysis and enzymatic testing of T ...[more]