DNAJC12 disease
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DNAJC12 disease. This is a disorder of biogenic amine synthesis. Fully referenced neurology checklist.
Pathology
- This is a disorder of biogenic amine synthesis
- This is caused by biallelic mutations in the DNAJC12 gene on chromosome 10
- The transmission is autosomal recessive
Clinical patterns
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Other neurological features
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Psychiatric features
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Metabolic features
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Differential diagnosis
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Treatment
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References
- Manti F, Ricciardi G, Nardecchia F, et al. DNAJC12 disease: clinical spectrum and long-term outcomes. Neurol Genet 2025; 12:e200335.
- Anikster Y, Haack TB, Vilboux T, et al. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am J Hum Genet 2017; 100:257-266.
- van Spronsen FJ, Himmelreich N, Rüfenacht V, et al. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. J Med Genet 2017 (Online ahead of print).
- Veenma D, Cordeiro D, Sondheimer N, Mercimek-Andrews S. DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. Eur J Hum Genet 2018; 26:1867-1870.
- Blau N, Martinez A, Hoffmann GF, Thöny B. DNAJC12 deficiency: a new strategy in the diagnosis of hyperphenylalaninemias. Mol Genet Metab 2018; 123:1-5.
