Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects. Issue 12 (2nd October 2013) - Chen, Dong‐Hui
Abstract We identified two novel mutations in ABHD12 in a woman with PHARC, a heterozygous p.Lys377* mutation and a 59‐kb deletion that encompasses exon 1 of ABHD12, exons 1‐4 of GINS1, and the promoters of both genes. In this first functional study of the effect of ABHD12 mutations, we demonstrated a 50% decrease in ABHD12 RNA expression and absence of ABHD12 hydrolase activity. Haploinsufficiency for GINS may play a role in the short stature of the patient and her mother.