ArticleMolecular genetics & genomic medicine2020
Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.Neurology. Genetics · 2026Article
- Central biogenic amine deficiency with concomitant exploratory behavioral deficits in Dnajc12 knock-out mice.NPJ Parkinson's disease · 2025Article
- Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model.Orphanet journal of rare diseases · 2025Article
- DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.International journal of neonatal screening · 2024Article
- A Case ofInternational journal of neonatal screening · 2024Article
- Restless legs syndrome in DNAJC12 deficiency.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- The Utility of Genomic Testing for Hyperphenylalaninemia.Journal of clinical medicine · 2022Review
- Inhibition of DNAJC12 Inhibited Tumorigenesis of Rectal Cancer via Downregulating HSPA4 Expression.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Regulation of p53 and Cancer Signaling by Heat Shock Protein 40/J-Domain Protein Family Members.International journal of molecular sciences · 2021Review
- DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.Metabolic brain disease · 2021Article
- DNAJC12 promotes lung cancer growth by regulating the activation of β‑catenin.International journal of molecular medicine · 2021Article
- Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.Molecular genetics & genomic medicine · 2020Article
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6 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundRecently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12-associated HPA is a rare in Chinese population so far.
methodsThe clinical information and blood samples from the patient and his family members were collected and analyzed. Whole-exome sequencing (WES) was used to identify the causative gene.
resultsWe reported a newborn patient with HPA, having excluded the causes in common genes associated with HPA. By using whole-exome sequencing, novel compound heterozygosity mutations in DNAJC12 were found, namely c.306C>G (p.His102Gln) and c.182delA (p.Lys61Argfs*6). Administering a diet with low phenylalanine combined with tetrahydrobiopterin and neurotransmitter precursors were shown to be effective in preventing neurodevelopmental delay for these patients.
conclusionOur finding confirms the diagnosis of DNAJC12-associated HPA and suggests that genetic detection of DNAJC12 should be considered when newborn screening results are positive for HPA.
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