DNAJC12 disease
Evidence-based neurology checklist on dnajc12 disease: 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 Other neurological features Psychiatric features…
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
Other neurological features
Psychiatric features
Metabolic features
Differential diagnosis
Treatment
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.
