Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

American Journal of Human Genetics

Volumn 102, Issue 1, 2018, Pages 188-195

  Ng, Bobby G ^a   Xu, Gege ^b   Chandy, Nandini ^c   Steyermark, Joan ^d   Shinde, Deepali N ^e   Radtke, Kelly ^e   Raymond, Kimiyo ^f   Lebrilla, Carlito B ^b   AlAsmari, Ali ^g   Suchy, Sharon F ^h   Powis, Zöe ^e   Faqeih, Eissa Ali ^g   Berry, Susan A ^d   Kronn, David F ^c   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NEW YORK MEDICAL COLLEGE   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e AMBRY GENETICS   (United States)

^f Mayo Clinic   (United States)

^g KING FAHAD MEDICAL CITY   (Saudi Arabia)

^h GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FUCOSE; FUCOSYLTRANSFERASE; FUCOSYLTRANSFERASE 8; UNCLASSIFIED DRUG; GLYCOPROTEIN 6-ALPHA-L-FUCOSYLTRANSFERASE; LECTIN; MESSENGER RNA; POLYSACCHARIDE;

ALLELE; ARTICLE; BRONCHOPNEUMONIA; CASE REPORT; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL GLAUCOMA; CONGENITAL HIP DISLOCATION; CONSANGUINEOUS MARRIAGE; CONTRACTURE; CONTROLLED STUDY; DEVELOPMENTAL DELAY; EPILEPSY; ESOPHAGUS ATRESIA; ESOPHAGUS FISTULA; EXON; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FIBROBLAST; FUCOSYLATION; FUT8 GENE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HYDRAMNIOS; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; KIDNEY CALCIFICATION; KYPHOSCOLIOSIS; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MOLECULAR PATHOLOGY; MUSCLE HYPOTONIA; OSTEOPENIA; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REACTIVE AIRWAY DISEASE; RESPIRATORY TRACT DISEASE; SEIZURE; SHORT STATURE; SINGLE UMBILICAL ARTERY; SPLICING DEFECT; WHOLE EXOME SEQUENCING; ALTERNATIVE RNA SPLICING; BLOOD; CELL CULTURE; CHILD; FATALITY; GENETICS; GLYCOSYLATION; METABOLISM; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

ALLELES; ALTERNATIVE SPLICING; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; FIBROBLASTS; FUCOSE; FUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; LECTINS; MALE; MUTATION; POLYSACCHARIDES; RNA, MESSENGER;

EID: 85040588389     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.12.009     Document Type: Article

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