Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

American Journal of Medical Genetics, Part A

Volumn 143, Issue 12, 2007, Pages 1371-1378

  Kranz, Christian ^a   Basinger, Alice A ^b,c   Güçsavaş Çalikoǧlu, Müge ^b   Sun, Liangwu ^a   Powell, Cynthia M ^b   Henderson, Frederick W ^b   Aylsworth, Arthur S ^b   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c Cook Children's Physician Network ^*  (United States)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Cardiomyopathy; CDG Ig; Congenital disorders of glycosylation; Genital hypoplasia; Immunodeficiency; Skeletal dysplasia

Indexed keywords

CARBOHYDRATE; GLUCOSE; GLYCAN; TRANSFERRIN;

ARTICLE; BLINDNESS; BONE DEFECT; BONE DYSPLASIA; CAMPTODACTYLY; CARDIOMYOPATHY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL HEART MALFORMATION; EDEMA; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GASTROINTESTINAL MOTILITY DISORDER; GENE MUTATION; HEART ARRHYTHMIA; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRAMNIOS; HYPERTROPHIC CARDIOMYOPATHY; HYPOGAMMAGLOBULINEMIA; HYPOGLYCEMIA; HYPONATREMIA; HYPOSPADIAS; IMMUNE DEFICIENCY; INTESTINE MALROTATION; LIMB MALFORMATION; MALE; MICROCEPHALY; MICROGNATHIA; NAIL HYPOPLASIA; NEWBORN; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PES EQUINOVARUS; PREMATURITY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETINA DETACHMENT; SCROTUM DISORDER; THROMBOCYTOPENIA; TRANSFERRIN BLOOD LEVEL;

AGAMMAGLOBULINEMIA; BONE DISEASES, DEVELOPMENTAL; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENITALIA; GLYCOSYLATION; HUMANS; INFANT, NEWBORN; LIPOPOLYSACCHARIDES; MALE; MANNOSYLTRANSFERASES; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; TRANSFERRIN;

EID: 34249884225     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31791     Document Type: Article

References (23)

1. Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM. 2005. Congenital disorder of glycosylation type la: A clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109:433-442.
2. Blank C, Smith LA, Hammer DA, Fehrenbach M. Delisser HM, Perez E, Sullivan KE. 2006. Recurrent infections and immunological dysfunction in congenital disorder of glycosylation la (CDG-1a). J Inherit Metab Dis 29:592.
3. Butler M, Quelhas D, Critchley AJ, Carchon H, Hebestreit HF, Hibbert RG, Vilarinho L, Teles E, Matthijs G, Schollen E, Argibay P, Harvey DJ, Dwek RA, Jaeken J, Rudd PM. 2003. Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology 13:601-622.
4. 2-PP-dolichyl mannosyl-transferase. J Biol Chem 277:25815-25822.
5. Clayton PT, Winchester BG, Keir G. 1992. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 15:857-861.
6. 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-deficiency glycoprotein syndrome. J Inherit Metab Dis 21:681 -682.
7. Di Rocco M, Henner T, Grubenmann CE, Pagliardini S, Allegri AE, Frank CG, Aebi M, Vignola S, Jaeken J. 2005. Congenital disorder of glycosylation (CDG) 1g: Report on a patient and review of the literature. J Inherit Metab Dis 28:1162-1164.
8. Edwards M. McKenzie F, O'Callaghan S, Somerset ID, Woodford P, Spilsbury J, Fietz M, Fletcher J. 2006. Prenatal diagnosis of congenital disorder of glycosylation type 1a (CDG-1a) by cordocentesis and transferrin isoelectric focussing oi serum of a 27-week fetus with non-immune hydrops. Prenat Diagn 26: 985-988.
9. Eklund EA, Newell JW, Sun L, Seo N-S, Alper G, Willert J, Freeze HH. 2005. Molecular and clinical description of the first US patients with congenital disorder of glycosylation 1g. Molec Genet and Metab 84:25-31.
10. Freeze HH. 2006. Genetic defects in the human glycome. Nat Rev Genet 7:537-551.
11. Garel C, Baumann C, Besnard M, Ogier Fl, Jaeken J, Hassan M. 1998. Carbohydrate-deficient glycoprotein syndrome type 1: A new case of dysostosis multiplex. Skeletal Radiol 27:43-45.
12. Grubenmann CE, Frank CG, Kjaergaard S, Berger EG, Aebi M, Hennet T. 2002. ALG12 mannosyltransfera.se defect: in congenital disorder of glycosylation 1g. Hum Molec Gen 11:2331-2339.
13. 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.
14. Marquardt T, Hulskamp G, Gehrmann J, Debus V, Harms E, Kehl HG. 2002. Severe transient myocardial ischaemia caused by hypertrophic cardiomyopahty in a patient with congenital disorder of glycosylation Ia. Eur J Pediatr 161:524-527.
15. Noelle V, Knuepfer M, Pulzer F, Schuster V, Siekmeyer W, Matthijs G, Vogtmann C. 2005. Unusual presentation of congenital disorder of glycosylation 1a: Congenital persistent thrombocytopenia, hypertrophic cardiomyopathy, and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 164:223-226.
16. Robertson SP, Roclda C, Bankier A. 2000. Hypogonadotrophic hypogonadism in Roifman syndrome. Clin Genet 57: 435-438.
17. Roifman CM. 1997. Immunological aspects of a novel immuno-deficiency syndrome that includes antibody deficiency with normal immunoglobulins, spondyloepiphyseal dysplasia, growth and developmental delay, and retinal dystrophy. Canad J Allergy Clin lmmun 2:94-98.
18. Roifman CM. 1999. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: A novel syndrome. Clin Genet 55:103-109.
19. Schade van Westrum SM, Nederkoorn PJ, Schuurman PR, Vulsma T, Duran M, Poll The BT. 2006. Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type 1a. J Pediatr 148:115-117.
20. Sun L, Eklund EA, Chung WK, Wang C, Cohan J, Freeze HH. 2005. Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrin Metab 90:4.371-4375.
21. Thiel C, Schwarz M, Hasilik M, Grieben U, Hanefeld F, Lehle L, von Figura K, Korner C. 2002. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation Ig. Biochem J 367:195-201.
22. Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. 2002. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet 11:599-604.
23. Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupre T, Seta N, Tchernia G, Koscielak J, Delaunay J. 2003. Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. Pediatr Res 54:224-229.