Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

Clinical Genetics

Volumn 88, Issue 6, 2015, Pages 597-599

  Williams, C ^a   Jiang, Y H ^a   Shashi, V ^a   Crimian, R ^a   Schoch, K ^a   Harper, A ^b   McHale, D ^c   Goldstein, D ^d   Petrovski, S ^d,e  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b North Carolina Baptist Hospital   (United States)

^c UCB PHARMA   (Belgium)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; POST GLYCOSYLPHOSPHATIDYLINOSITOL ATTACHMENT TO PROTEINS 1 PROTEIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; PGAP1 PROTEIN, HUMAN; PHOSPHATASE; STOP CODON;

AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CHILD; CORTICAL DYSPLASIA; DEVELOPMENTAL DISORDER; DYSKINESIA; ELECTROCORTICOGRAPHY; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LETTER; LOSS OF FUNCTION MUTATION; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; VISUAL IMPAIRMENT; WHITE MATTER; DEVELOPMENTAL LANGUAGE DISORDER; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; RECESSIVE GENE; STOP CODON;

BRAIN DISEASES; CHILD, PRESCHOOL; CODON, NONSENSE; DEVELOPMENTAL DISABILITIES; EXOME; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; PHOSPHORIC MONOESTER HYDROLASES; SEQUENCE ANALYSIS, DNA;

EID: 84946400859     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12581     Document Type: Letter

References (5)

1. Murakami Y, Tawamie H, Maeda Y et al. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet 2014: 10: e1004320.
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3. (ExAC) EAC. Exome Aggregation Consortium (ExAC). Cambridge, MA, from http://xac.broadinstitute.org. Accessed on October, 2014.
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5. Novarino G, Fenstermaker AG, Zaki MS et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014: 343: 506-511.