Research & Literature

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, et al.

American journal of human genetics 2017; (100(2)):257-266 doi:10.1016/j.ajhg.2017.01.002.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.

van Spronsen FJ, Himmelreich N, Rüfenacht V, et al.

Journal of medical genetics 2017; doi:10.1136/jmedgenet-2017-104875.

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, et al.

Annals of neurology 2017; (82(4)):640-646 doi:10.1002/ana.25048.

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B

Molecular genetics and metabolism 2018; (123(1)):1-5 doi:10.1016/j.ymgme.2017.11.005.

Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, et al.

JIMD reports 2018; (42()):99-103 doi:10.1007/8904_2017_86.

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Veenma D, Cordeiro D, Sondheimer N, Mercimek-Andrews S

European journal of human genetics : EJHG 2018; (26(12)):1867-1870 doi:10.1038/s41431-018-0237-9.

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Li M, Yang Q, Yi S, et al.

Molecular genetics & genomic medicine 2020; (8(8)):e1303 doi:10.1002/mgg3.1303.

Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.

Porta F, Ponzone A, Spada M

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; (28()):77-80 doi:10.1016/j.ejpn.2020.07.011.

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Çıkı K, Yıldız Y, Yücel Yılmaz D, et al.

Metabolic brain disease 2021; (36(6)):1405-1410 doi:10.1007/s11011-021-00753-0.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Keller M, Brennenstuhl H, Kuseyri Hübschmann O, et al.

Journal of inherited metabolic disease 2021; (44(6)):1489-1502 doi:10.1002/jimd.12416.

Clinical, genetic, and experimental research of hyperphenylalaninemia.

Chen A, Pan Y, Chen J

Frontiers in genetics 2022; (13()):1051153 doi:10.3389/fgene.2022.1051153.

Restless legs syndrome in DNAJC12 deficiency.

Porta F, Neirotti A, Spada M

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(6)):2167-2172 doi:10.1007/s10072-023-06733-9.

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

Wang L, Ma D, Sun Y, et al.

Gene 2023; (869()):147397 doi:10.1016/j.gene.2023.147397.

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Wong RSH, Mohammad S, Parayil Sankaran B, et al.

Brain & development 2023; (45(9)):523-531 doi:10.1016/j.braindev.2023.04.004.

A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.

Gunes D, Senturk L

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(8)):791-797 doi:10.1515/jpem-2023-0049.

DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.

Fino E, Barbato A, Scaturro GM, et al.

Molecular genetics and metabolism reports 2023; (37()):101008 doi:10.1016/j.ymgmr.2023.101008.

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Wong TS, Wong SSN, Kwok AMK, et al.

International journal of neonatal screening 2024; (10(4)) doi:10.3390/ijns10040074.

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Manti F, Ricciardi G, Nardecchia F, et al.

Neurology. Genetics 2026; (12(1)):e200335 doi:10.1212/NXG.0000000000200335.

DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate-Dependent Activation.

Tai MDS, Kråkenes TA, Gamiz-Arco G, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2026; (40(14)):e72151 doi:10.1096/fj.202504522RR.