Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit...
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| Published in: | American journal of human genetics Vol. 100; no. 2; pp. 257 - 266 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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Elsevier Inc
02-02-2017
Cell Press Elsevier |
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| Abstract | Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes. In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12, which encodes a heat shock co-chaperone family member that interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing the BH4-activated conversion of phenylalanine into tyrosine, tyrosine into L-dopa (the precursor of dopamine), and tryptophan into 5-hydroxytryptophan (the precursor of serotonin), respectively. DNAJC12 was undetectable in fibroblasts from the individuals with null mutations. PAH enzyme activity was reduced in the presence of DNAJC12 mutations. Early treatment with BH4 and/or neurotransmitter precursors had dramatic beneficial effects and resulted in the prevention of neurodevelopmental delay in the one individual treated before symptom onset. Thus, DNAJC12 deficiency is a preventable and treatable cause of intellectual disability that should be considered in the early differential diagnosis when screening results are positive for HPA. Sequencing of DNAJC12 may resolve any uncertainty and should be considered in all children with unresolved HPA. |
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| AbstractList | Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH
) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH
metabolism disorder-related genes. In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12, which encodes a heat shock co-chaperone family member that interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing the BH
-activated conversion of phenylalanine into tyrosine, tyrosine into L-dopa (the precursor of dopamine), and tryptophan into 5-hydroxytryptophan (the precursor of serotonin), respectively. DNAJC12 was undetectable in fibroblasts from the individuals with null mutations. PAH enzyme activity was reduced in the presence of DNAJC12 mutations. Early treatment with BH
and/or neurotransmitter precursors had dramatic beneficial effects and resulted in the prevention of neurodevelopmental delay in the one individual treated before symptom onset. Thus, DNAJC12 deficiency is a preventable and treatable cause of intellectual disability that should be considered in the early differential diagnosis when screening results are positive for HPA. Sequencing of DNAJC12 may resolve any uncertainty and should be considered in all children with unresolved HPA. Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes. In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12, which encodes a heat shock co-chaperone family member that interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing the BH4-activated conversion of phenylalanine into tyrosine, tyrosine into L-dopa (the precursor of dopamine), and tryptophan into 5-hydroxytryptophan (the precursor of serotonin), respectively. DNAJC12 was undetectable in fibroblasts from the individuals with null mutations. PAH enzyme activity was reduced in the presence of DNAJC12 mutations. Early treatment with BH4 and/or neurotransmitter precursors had dramatic beneficial effects and resulted in the prevention of neurodevelopmental delay in the one individual treated before symptom onset. Thus, DNAJC12 deficiency is a preventable and treatable cause of intellectual disability that should be considered in the early differential diagnosis when screening results are positive for HPA. Sequencing of DNAJC12 may resolve any uncertainty and should be considered in all children with unresolved HPA. Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase ( PAH ), and a small proportion (2%) exhibit tetrahydrobiopterin (BH 4 ) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH 4 metabolism disorder-related genes. In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12 , which encodes a heat shock co-chaperone family member that interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing the BH 4 -activated conversion of phenylalanine into tyrosine, tyrosine into L-dopa (the precursor of dopamine), and tryptophan into 5-hydroxytryptophan (the precursor of serotonin), respectively. DNAJC12 was undetectable in fibroblasts from the individuals with null mutations. PAH enzyme activity was reduced in the presence of DNAJC12 mutations. Early treatment with BH 4 and/or neurotransmitter precursors had dramatic beneficial effects and resulted in the prevention of neurodevelopmental delay in the one individual treated before symptom onset. Thus, DNAJC12 deficiency is a preventable and treatable cause of intellectual disability that should be considered in the early differential diagnosis when screening results are positive for HPA. Sequencing of DNAJC12 may resolve any uncertainty and should be considered in all children with unresolved HPA. |
| Author | Benoist, Jean-François Berutti, Riccardo Meissner, Thomas Pode-Shakked, Ben Engels, Hartmut Meitinger, Thomas Harper, J. Wade Heimer, Gali Schwartz, Gerard Strom, Tim M. Marek-Yagel, Dina Vilboux, Thierry Thöny, Beat Shen, Nan Huttlin, Edward L. Trefz, Friedrich K. Landau, Yuval Cremer, Kirsten Gemperle-Britschgi, Corinne Malicdan, May Christine V. Opladen, Thomas Keller, Irene Bruggmann, Rémy Hoffmann, Georg F. Anikster, Yair Guarani, Virginia Imbard, Apolline Martinez, Aurora Meili, David Gahl, William A. Dorboz, Imen Mayatepek, Ertan Mullikin, James C. Haack, Tobias B. Ziv-Strasser, Limor Blau, Nenad Schiff, Manuel Ben-Zeev, Bruria Prokisch, Holger Paulo, Joao A. |
| AuthorAffiliation | 13 Department of Biomedicine and K.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen 5009, Norway 19 Institute of Human Genetics, University of Bonn, Bonn 53127, Germany 12 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Duesseldorf 40225, Germany 5 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany 8 Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel Hashomer 52621, Israel 11 Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA 21 Department of Clinical Research, University of Bern, Berne 3012, Switzerland 7 Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA 22042, USA 3 The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer 52621, Israel 15 UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris 75019, France 2 Sackler Faculty of Medicine, Te |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28132689$$D View this record in MEDLINE/PubMed |
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| Copyright | 2017 American Society of Human Genetics Copyright © 2017 American Society of Human Genetics. All rights reserved. Copyright Cell Press Feb 2, 2017 2017 American Society of Human Genetics. 2017 American Society of Human Genetics |
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| Issue | 2 |
| Keywords | neurotransmitter deficiency tetrahydrobiopterin dystonia DNAJC12 phenylketonuria hyperphenylalaninemia newborn screening BH4 BH |
| Language | English |
| License | This article is made available under the Elsevier license. Copyright © 2017 American Society of Human Genetics. All rights reserved. |
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| Notes | These authors contributed equally to this work |
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| SubjectTerms | Alleles Amino Acid Sequence BH4 Biopterins - analogs & derivatives Biopterins - metabolism Case-Control Studies DNAJC12 Dopamine - deficiency Dopamine - metabolism dystonia Dystonia - genetics Exons Female Fibroblasts - metabolism Gene Deletion Genes Genome-Wide Association Study HSP70 Heat-Shock Proteins - genetics Humans hyperphenylalaninemia Intellectual disabilities Intellectual Disability - genetics Male Medical disorders Medical screening Mutation Neurological disorders neurotransmitter deficiency newborn screening Pedigree Phenylalanine - metabolism Phenylalanine Hydroxylase - genetics phenylketonuria Phenylketonurias - genetics Repressor Proteins - genetics Serotonin - deficiency Serotonin - metabolism tetrahydrobiopterin Tryptophan - metabolism Tryptophan Hydroxylase - genetics Tryptophan Hydroxylase - metabolism Tyrosine - metabolism Tyrosine 3-Monooxygenase - genetics Tyrosine 3-Monooxygenase - metabolism |
| Title | Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability |
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