Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia

•The is the first report of DNAJC12-deficient HPA patient in Jiangsu province, China.•Two novel compound heterozygous variants in DNAJC12 were detected.•The splice variant was predicted to lead to introduction of a premature termination codon by in vitro minigene assay. Recently, variants in DNAJC12...

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Veröffentlicht in:	Gene 2023-06, Vol.869, p.147397-147397, Article 147397
Hauptverfasser:	Wang, Lulu, Ma, Dingyuan, Sun, Yun, Wang, Yuguo, Zeng, Huasha, Liu, Gang, Zhang, Jingjing, Xu, Zhengfeng
Format:	Artikel
Sprache:	eng
Schlagworte:	DNAJC12 Frameshift Mutation Humans Hyperphenylalaninemia Infant Infant, Newborn Minigene Mutation Next-generation sequencing Novel Phenylalanine Hydroxylase - genetics Phenylketonurias - genetics RNA Splicing
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