ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 170-175

  Riess, Suzi ^a   Reddihough, Dinah Susan ^a,b   Howell, Katherine Brooke ^a   Dagia, Charuta ^a   Jaeken, Jaak ^c   Matthijs, Gert ^d   Yaplito Lee, Joy ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Cerebellar hypoplasia; Congenital disorders of glycosylation; Disability; Somnolence

Indexed keywords

APGAR SCORE; ARTICLE; BIOCHEMISTRY; BIRTH WEIGHT; BREECH PRESENTATION; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1D; DIVERGENT STRABISMUS; FACE DYSMORPHIA; FEMALE; GASTROINTESTINAL SYMPTOM; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; SIBLING; ADOLESCENT; ADULT; CONGENITAL DISORDER OF GLYCOSYLATION; ENDOPLASMIC RETICULUM; ENZYMOLOGY; GENETICS; INFANT; MUTATION; PATHOLOGY; PHENOTYPE; RADIOGRAPHY;

ALG3 PROTEIN, HUMAN; MANNOSYLTRANSFERASE;

ADOLESCENT; ADULT; CONGENITAL DISORDERS OF GLYCOSYLATION; ENDOPLASMIC RETICULUM; HUMANS; INFANT; MALE; MANNOSYLTRANSFERASES; MICROCEPHALY; MUTATION; PHENOTYPE; SIBLINGS;

EID: 84882864076     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.05.020     Document Type: Article

References (8)

1. Jaeken J. Congenital disorders of glycosylation. Ann. N. Y. Acad. Sci. 2010, 1214:190-198.
2. Lockemer H.E., Harrington J.W. Presentation of congenital disorders of glycosylation type 1a. Pediatr. Emerg. Care 2010, 26:215-217.
3. Stibler H., Stephani U., Kutsch U. Carbohydrate-deficient glycoprotein syndrome - a fourth subtype. Neuropediatrics 1995, 26:235-237.
4. Denecke J., Kranz C., Von Kleist-Retzow J., Bosse K., Herkenrath P., Debus O., Harms E., Marquardt T. Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Pediatr. Res. 2005, 58:248-253.
5. Schollen E., Grunewald S., Keldermans L., Albrecht B., Korner C., Matthijs G. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter). Eur. J. Med. Genet. 2005, 48:153-158.
6. Sun L., Eklund E.A., Chung W.K., Wang C., Cohen J., Freeze H.H. Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J. Clin. Endocrinol. Metab. 2005, 90:4371-4375.
7. Kranz C., Sun L., Eklund E.A., Krasnewich D., Casey J.R., Freeze H.H. CDG-Id in two siblings with partially different phenotypes. Am. J. Med. Genet. A 2007, 143A:1414-1420.
8. Rimella-Le-Huu A., Henry H., Kern I., Hanquinet S., Roulet-Perez E., Newman C.J., Superti-Furga A., Bonafe L., Ballhausen D. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. J. Inherit. Metab. Dis. 2008, 31(Suppl. 2):S381-S386.