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Article

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.

The Journal of molecular diagnostics : JMD - 1 May 2023

Luo Xiaomei, Wang Ruifang, Sun Yu, Qiu Wenjuan, Lu Deyun, Wang Yu, Gong Zhuwen, Zhang Huiwen, Han Lianshu, Liang Lili, Gu Xuefan, Yu Yongguo, Xiao Bing

Abstract excerpt

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 patients with genetically unsolved HPA from 2013 to 2022. The...

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PMID: 36849017
DOI: 10.1016/j.jmoldx.2023.02.001

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