Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia

Phenylalanine hydroxylase (PAH) deficiency or phenylketonuria (PKU) is the most common cause of hyperphenylalaninemia (HPA), and approximately 5% of patients remain genetically unsolved. Identifying deep intronic PAH variants may help improve their molecular diagnostic rate. Next-generation sequencing was utilized to detect the whole PAH gene in 96 genetically unsolved HPA patients from 2013 to 2022. The effects of deep intronic variants on pre-mRNA splicing were investigated by minigene-based assay.

Source: Journal of Molecular Diagnostics - February 25, 2023 Category: Pathology Authors: Xiaomei Luo, Ruifang Wang, Yu Sun, Wenjuan Qiu, Deyun Lu, Yu Wang, Zhuwen Gong, Huiwen Zhang, Lianshu Han, Lili Liang, Xuefan Gu, Yongguo Yu, Bing Xiao Tags: Regular Article Source Type: research