eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency

Donnelly, Colleen; Ganesh, Jaya; Cork, Emalyn; Estrella, Lissette; Ginevic, Ilona; Campbell, Casey; Sahota, Jessica; Mason, Lauren; Miller, Suzanne L.

doi:10.1016/j.gim.2022.01.049

Cited by 2 publications

(3 citation statements)

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“…[38][39][40] With the recognition that recessively inherited DNAJC12 lossof-function pathogenic variants may cause HPA, this gene has recently been included in newborn genetic testing. [41][42][43][44] Recognizing this bias and based on patients identified with DNAJC12 variants between 2017 and 2023 (Fig. 3A,B), the most predominant features in the first decade include developmental delay, attention deficit hyperactivity disorder (ADHD), speech delay, intellectual disability, autism, axial hypotonia and dystonia.…”

Section: Overview Of Patients With Dnajc12 Mutationsmentioning

confidence: 99%

“…Therefore, these patients might constitute cases of “scans without evidence of dopaminergic deficits” an enigmatic clinical dilemma that is also evident in patients with Parkinson's disease (PD) and l ‐dopa‐responsive dystonia 38‐40 . With the recognition that recessively inherited DNAJC12 loss‐of‐function pathogenic variants may cause HPA, this gene has recently been included in newborn genetic testing 41‐44 . Recognizing this bias and based on patients identified with DNAJC12 variants between 2017 and 2023 (Fig.…”

Section: Monoamine Biosynthesismentioning

confidence: 99%

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DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration

Deng,

Follett,

et al. 2023

Movement Disorders

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Recent studies show that pathogenic variants in DNAJC12, a co‐chaperone for monoamine synthesis, may cause mild hyperphenylalaninemia with infantile dystonia, young‐onset parkinsonism, developmental delay and cognitive deficits. DNAJC12 has been included in newborn screening, most revealingly in Spain, and those results highlight the importance of genetic diagnosis and early intervention in combating human disease. However, practitioners may be unaware of these advances and it is probable that many patients, especially adults, have yet to receive molecular testing for DNAJC12. Hence, this review summarizes genotype–phenotype relationships and treatment paradigms for patients with pathogenic variants in DNAJC12. It provides an overview of the structure of DNAJC12 protein, known genetic variants, domains, and binding partners, and elaborates on its role in monoamine synthesis, disease etiology, and pathogenesis. © 2023 International Parkinson and Movement Disorder Society.

show abstract

Section: Overview Of Patients With Dnajc12 Mutationsmentioning

confidence: 99%

Section: Monoamine Biosynthesismentioning

confidence: 99%

DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration

Deng,

Follett,

et al. 2023

Movement Disorders

View full text Add to dashboard Cite

show abstract

“…[38][39][40] With the recognition that recessively inherited DNAJC12 loss-of-function mutations may cause HPA, this gene has recently been included in newborn genetic testing. [41][42][43][44] Recognizing this bias and based on patients identified with DNAJC12 mutations between 2017-2023 (Fig 3A to B), the most predominant features in the first decade include developmental delay, attention deficit hyperactivity disorder (ADHD), speech delay, intellectual disability, autism, axial hypotonia and dystonia. In the second decade, the phenotype is marked by prominent parkinsonism, dystonia, axial hypotonia, with/without intellectual disability, and to a lesser extent, psychiatric features, ADHD or other cognitive deficits.…”

Section: Overview Of Patients With Dnajc12 Mutationsmentioning

confidence: 99%

DNAJC12 in monoamine metabolism, neurodevelopment and neurodegeneration

Deng

Follett

et al. 2023

Preprint

View full text Add to dashboard Cite

Recent studies show that mutations in DNAJC12, a co-chaperone for monoamine synthesis may cause mild hyperphenylalaninemia with infantile dystonia, young-onset parkinsonism, developmental delay and cognitive deficits. To this end, DNAJC12 gene has been included in newborn screening, most revealingly in Spain, and those results are a testament to the importance of early diagnosis and treatment in combating human diseases. However, practitioners may be unaware of these advances and it is probable that many patients, especially adults, have yet to receive molecular testing for DNAJC12. Therefore, this review summarizes genotype-phenotype relationships and treatment paradigms for patients with DNAJC12 mutations. It provides an overview of the structure of DNAJC12 protein, known mutations, domains and binding partners, and elaborates on its role in monoamine synthesis, disease etiology and pathogenesis.

show abstract

eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency

Cited by 2 publications

References 0 publications

DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration

DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration

DNAJC12 in monoamine metabolism, neurodevelopment and neurodegeneration

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