A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2029-2034

  McKenzie, F A ^a,b,g   Fietz, M ^c   Fletcher, J ^c   Smith, R L L ^b,d   Wright, I M R ^b,e   Jaeken, J ^f  

^a Hunter Genetics   (Australia)

^b UNIVERSITY OF NEWCASTLE   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d JOHN HUNTER CHILDREN S HOSPITAL   (Australia)

^e Hunter Genetics ^*  (Australia)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g Hunter Health   (Australia)

Author keywords

Arthrogryposis; CDG; Congenital disorder of glycosylation; Fetal death; Hydrops fetalis; Joint contractures; Protein losing enteropathy

Indexed keywords

MANNOSE; TRANSFERRIN;

AIRWAY PRESSURE; ARTICLE; ASCITES; ASSISTED VENTILATION; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL DISORDER; CYSTIC LYMPHANGIOMA; DIARRHEA; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; EXTRAMEDULLARY HEMATOPOIESIS; FACIES; FEMALE; GENERALIZED EDEMA; GLYCOSYLATION CONGENITAL DISORDER; HIP CONTRACTURE; HUMAN; HYPERTELORISM; HYPOALBUMINEMIA; HYPOPROTEINEMIA; JOINT CONTRACTURE; KARYOTYPE; LUNG HEMORRHAGE; MALE; MORPHOLOGY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE CONDUCTION; NEWBORN; PERICARDIAL EFFUSION; PREMATURITY; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PROTEIN LOSING GASTROENTEROPATHY; SCLEROSIS; SEROLOGY; SIBLING; STOMACH HEMORRHAGE; TENDON REFLEX; THYROID FUNCTION; TRANSFERRIN BLOOD LEVEL; X RAY ANALYSIS; CHILD DEATH; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE ASSOCIATION; DISEASE SEVERITY; FACE DYSMORPHIA; FETUS; FETUS HYDROPS; FETUS WASTAGE; PREMATURE LABOR; RESPIRATORY FAILURE;

ADULT; FEMALE; GLYCOSYLATION; HUMANS; HYDROPS FETALIS; HYPOPROTEINEMIA; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS;

EID: 34548319491     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31867     Document Type: Article

References (32)

1. Acarregui MJ, George TN, Rhead WJ. 1998. Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities. J Pediatr 133:697-700.
2. Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlstrom JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupre T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L. 1999. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 16:669-671.
3. Al Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R, 2003. Further delineation of Hennekam syndrome. Clin Dysmorphol 12:227-232.
4. Bellini C, Mazzella M, Arioni C, Campisi C, Taddei G, Toma P, Boccardo F, Hennekam RC, Serra G. 2003. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am J Med Genet Part A 120A:92-96.
5. Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. 2003. A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J Biol Chem 278:9962-9971.
6. Charlwood J, Clayton P, Keir G, Mian N, Winchester B. 1998. Defective galactosylation of serum transferrin in galactosemia. Glycobiology 8:351-357.
7. Damen G, de Klerk H, Huijmans J, den Hollander J, Sinaasappel M. 2004. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic. J Pediatr Gastroenterol Nutr 38:282-287.
8. de Koning TJ, Toet M, Dorland L, de Vries LS, van den Berg IE, Duran M, Poll-The BT. 1998. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 21:681-682.
9. de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, Van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. 2001. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases. J Med Genet 38:14-19.
10. Edwards M, McKenzie F, O'Callaghan S, Somerset D, Woodford P, Spilsbury J, Fietz M, Fletcher J. 2006. Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. Prenat Diagn 26:985-988.
11. Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T. 2004. Identification and functional analysis of a defect in the human ALG9 gene: Definition of congenital disorder of glycosylation type IL. Am J Hum Genet 75:146-150.
12. Gabrielli O, Catassi C, Carlucci A, Coppa GV, Giorgi P. 1991. Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome. Am J Med Genet 40:244-247.
13. Grubenmann CE, Frank CG, Hulsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T. 2004. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet 13:535-542.
14. Grunewald S, De Vos R, Jaeken J. 2003. Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG). J Inherit Metab Dis 26:49-54.
15. Harms HK, Zimmer KP, Kurnik K, Bertele-Harms RM, Weidinger S, Reiter K. 2002. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. Acta Paediatr 91:1065-1072.
16. Hendriksz CJ, McClean P, Henderson MJ, Keir DG, Worthington VC, Imtiaz F, Schollen E, Matthijs G, Winchester BG. 2001. Successful treatment of carbohydrate deficient glycoprotein syndrome type Ib with oral mannose. Arch Dis Child 85:339340.
17. Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA, Tillemans AA. 1989. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 34:593-600.
18. Jacquemont S, Barbarot S, Boceno M, Stalder JF, David A. 2000. Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: Confirmation of Njolstad's report. Am J Med Genet 93:264-268.
19. Jaeken J, Carchon H. 2004. Congenital disorders of glycosylation: A booming chapter of pediatrics. Curr Opin Pediatr 16:434-439.
20. Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E. 1998. Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 62:1535-1539.
21. Keir G, Winchester BG, Clayton P. 1999. Carbohydrate-deficient glycoprotein syndromes: Inborn errors of protein glycosylation. Ann Clin Biochem 36:20-36.
22. Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T. 2004. Congenital disorder of glycosylation type Ik (CDG-Ik): A defect of mannosyl-transferase I. Am J Hum Genet 74:545-551.
23. Lammens M, Moerman P, Fryns JP, Lemmens F, van de Kamp GM, Goemans N, Dom R. 1997. Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 28:116-119.
24. Marquardt T, Denecke J. 2003. Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162:359-379.
25. Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R. 2005. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood 105:2671-2676.
26. Matthijs G, Schollen E, Van Schaftingen E. 2004. The prenatal diagnosis of congenital disorders of glycosylation (CDG). Prenat Diagn 24:114-116.
27. Mention K, Michaud L, Dobbelaere D, Guimber D, Gottrand F, Turck D. 2001. Neonatal severe intractable diarrhea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x). Arch Dis Child Fetal Neonatal Ed 85:F217-F219.
28. Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Hamis HK, Marquardt T. 1998. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101:1414-1420.
29. Ornstein KS, McGuire EJ, Berry GT, Roth S, Segal S. 1992. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res 31:508-511.
30. Scarcella A, De Lucia A, Pasquariello MB, Gambardella P. 2000. Early death in two sisters with Hennekam syndrome. Am J Med Genet 93:181-183.
31. Schwarz M, Thiel C, Lubbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Korner C. 2004. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet 74:472-481.
32. Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC. 2002. Lyniphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review. Am J Med Genet 112:412-421.