A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

European Journal of Human Genetics

Volumn 21, Issue 8, 2013, Pages 844-849

  Iqbal, Zafar ^a   Shahzad, Mohsin ^b   Vissers, Lisenka E L M ^a   Van Scherpenzeel, Monique ^c   Gilissen, Christian ^a   Razzaq, Attia ^b   Zahoor, Muhammad Yasir ^b   Khan, Shaheen N ^b   Kleefstra, Tjitske ^a   Veltman, Joris A ^a   De Brouwer, Arjan P M ^a,d   Lefeber, Dirk J ^c   Van Bokhoven, Hans ^a,d   Riazuddin, Sheikh ^b,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e UNIVERSITY OF LAHORE   (Pakistan)

Author keywords

Congenital disorders of glycosylation; DPAGT1; Exome sequencing; Intellectual disability; Iso electric focusing; Mass spectrometry

Indexed keywords

AMINO ACID; PROTEIN; PROTEIN DPAGT1; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; AGGRESSION; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 19P; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; COPY NUMBER VARIATION; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; EPILEPSY; EXOME; FEMALE; GENE SEQUENCE; GENETIC DISORDER; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; ISOELECTRIC FOCUSING; MALE; MASS SPECTROMETRY; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSFERRIN BLOOD LEVEL;

ADULT; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GLYCOSYLATION; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PHENOTYPE; TRANSFERRIN;

EID: 84880923010     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.257     Document Type: Article

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