Conotruncal heart defects in three patients with congenital disorder of glycosylation type ia (CDG la)

Journal of Medical Genetics

Volumn 46, Issue 4, 2009, Pages 287-288

  Romano, S ^a,b   Bajolle, F ^a,b   Valayannopoulos, V ^a,b   Lyonnet, S ^a,b   Colomb, V ^a   De Barace C ^c   Vouhe, P ^a   Pouard, P ^a   Vuillaumier Barrot, S ^d   Dupre T ^d   De Keyzer, Y ^b   Sidi, D ^a,b   Seta, N ^b,d   Bonnet, D ^a,b   De Lonlay, P ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Hôpital de St Brieuc   (France)

^d BICHAT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN;

BRAIN ATROPHY; CASE REPORT; CEREBELLUM HYPOPLASIA; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; FAILURE TO THRIVE; FALLOT TETRALOGY; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; KARYOTYPING; LETTER; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NIPPLE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; WESTERN BLOTTING;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 65949119516     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.057620     Document Type: Letter

References (15)

1. Wulfsberg EA, Zintz EJ, Moore JW. The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia. Clin Genet 1991;40:12-16.
2. Neches WH, Park SC, Ettedgui JA. Tetralogy of Fallot and tetralogy of Fallot with pulmonary atresia. In:Garson A, Bricker JT, Fisher DJ, Neish SR, eds. The science and practiceof pediatric cardiology, 2nd ed, vol2, chapter 60. Baltimore: Williams & Williams, 1998: 1383-1413.
3. Marino B, Digilio MC. Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 2000;9:303-15.
4. Jaeken J, Carchon H, Stibler H. The carbohydratedeficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 1993;3:423-8.
5. 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. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 2001;38:14-19.
6. Marquardt T, Hulskamp G, Gehrmann J, Debus V, Harms E, Kehl HG. Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 2002 Oct; 161: 524-527.
7. Van De Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 2007;44:277-280.
8. Hutson MR, Kirby ML. Neural crest and cardiovascular development: a 20-year perspective. Birth Defects Res C Embryo Today 2003;69:2-13.
9. Maschhoff KL, Baldwin HS. Molecular determinants of neural crest migration. Am J Med Genet 2000;97:280-8.
10. Hynes RO. Targeted mutations in cell adhesion genes: What have we learned from them? Dev Biol 1996;180:402-412.
11. Luo Y, High FA, Epstein JA, Radice GL. N-cadherin is required for neural crest remodeling of the cardiac outflow tract. Dev Biol 2006;299:517-528.
12. Xu X, Li WE, Huang GY, Meyer R, Chen T, Luo Y, Thomas MP, Radice GL, Lo CW. N-cadherin and Cx43alpha1 gap junctions modulates mouse neural crest cell motility via distinct pathways. Cell Commun Adhes 2001;8:321-324.
13. Radice GL, Rayburn H, Matsunami H, Knudsen KA, Takeichi M, Hynes RO. Developmental defects in mouse embryos lacking N-cadherin. Dev Biol 1997;181:64-78.
14. Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N. Characterization of the 415G. A (E139K) PMM2 mutation in carbohydratedeficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. Hum Mutat 1999;14:543-544.
15. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, et al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 2000;16:386-394.