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Article

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

Gene - 15 Jun 2023

Wang Lulu, Ma Dingyuan, Sun Yun, Wang Yuguo, Zeng Huasha, Liu Gang, Zhang Jingjing, Xu Zhengfeng

Abstract excerpt

BACKGROUND: Recently, variants in DNAJC12 were reported to be a novel genetic cause of hyperphenylalaninemia (HPA); however, thus far, fewer than fifty cases have been reported worldwide. Some patients with DNAJC12 deficiency present with mild HPA, developmental delay, dystonia, Parkinson's disease and psychiatric abnormalities. METHODS: Herein, we report the case of a two-month-old Chinese infant with mild HPA,...

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Identifiers

PMID: 36990253
DOI: 10.1016/j.gene.2023.147397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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