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

American Journal of Human Genetics

Volumn 100, Issue 2, 2017, Pages 257-266

  Anikster, Yair ^a,b   Haack, Tobias B ^c,d   Vilboux, Thierry ^e,f   Pode Shakked, Ben ^a,b   Thöny, Beat ^g   Shen, Nan ^h   Guarani, Virginia ⁱ   Meissner, Thomas ^j   Mayatepek, Ertan ^j   Trefz, Friedrich K ^h   Marek Yagel, Dina ^a,b   Martinez, Aurora ^k   Huttlin, Edward L ⁱ   Paulo, Joao A ⁱ   Berutti, Riccardo ^c,d   Benoist, Jean François ^l   Imbard, Apolline ^l   Dorboz, Imen ^m   Heimer, Gali ^a,b   Landau, Yuval ^a,b   Ziv Strasser, Limor ^a   Malicdan, May Christine V ^e,f,n   Gemperle Britschgi, Corinne ^g   Cremer, Kirsten ^o   Engels, Hartmut ^o   Meili, David ^g   Keller, Irene ^p   Bruggmann, Rémy ^p   Strom, Tim M ^c,d   Meitinger, Thomas ^c,d   Mullikin, James C ^e   Schwartz, Gerard ^a,b   Ben Zeev, Bruria ^a,b   Gahl, William A ⁿ   Harper, J Wade ⁱ   Blau, Nenad ^h   Hoffmann, Georg F ^h   Prokisch, Holger ^c,d   Opladen, Thomas ^h   Schiff, Manuel ^l,m   more..

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f Inova Translational Medicine Institute   (United States)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^k UNIVERSITY OF BERGEN   (Norway)

^l HÔPITAL ROBERT DEBRÉ   (France)

^m INSERM   (France)

ⁿ NATIONAL INSTITUTES OF HEALTH   (United States)

^o UNIVERSITY OF BONN   (Germany)

^p UNIVERSITY OF BERN   (Switzerland)

more..

Author keywords

BH4; DNAJC12; dystonia; hyperphenylalaninemia; neurotransmitter deficiency; newborn screening; phenylketonuria; tetrahydrobiopterin

Indexed keywords

5 HYDROXYTRYPTOPHAN; DOPAMINE; LEVODOPA; NEUROTRANSMITTER; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SEROTONIN; TETRAHYDROBIOPTERIN; TRYPTOPHAN; TRYPTOPHAN HYDROXYLASE 2; TYROSINE; TYROSINE 3 MONOOXYGENASE; BIOPTERIN; HEAT SHOCK PROTEIN 70; JDP1 PROTEIN, HUMAN; REPRESSOR PROTEIN; SAPROPTERIN; TRYPTOPHAN HYDROXYLASE;

ALLELE; ARTICLE; CEREBROSPINAL FLUID LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DNAJC12 GENE; DYSTONIA; ENZYME ACTIVITY; FIBROBLAST; GENE; GENE FREQUENCY; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HYPERPHENYLALANINEMIA; INTELLECTUAL IMPAIRMENT; PHENOTYPE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; ANALOGS AND DERIVATIVES; CASE CONTROL STUDY; DEFICIENCY; EXON; FEMALE; GENE DELETION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MALE; METABOLISM; PEDIGREE; PHENYLKETONURIA;

ALLELES; AMINO ACID SEQUENCE; BIOPTERIN; CASE-CONTROL STUDIES; DOPAMINE; DYSTONIA; EXONS; FEMALE; FIBROBLASTS; GENE DELETION; GENOME-WIDE ASSOCIATION STUDY; HSP70 HEAT-SHOCK PROTEINS; HUMANS; INTELLECTUAL DISABILITY; MALE; PEDIGREE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; REPRESSOR PROTEINS; SEROTONIN; TRYPTOPHAN; TRYPTOPHAN HYDROXYLASE; TYROSINE; TYROSINE 3-MONOOXYGENASE;

EID: 85010867666     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.01.002     Document Type: Article

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