ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 389-393

  Joziasse, Irene C ^a   Smith, Kelly A ^a,b   Chocron, Sonja ^a,b   Van Dinther, Maarten ^c   Guryev, Victor ^a   Van De Smagt, Jasper J ^a   Cuppen, Edwin ^a   Ten Dijke, Peter ^c   Mulder, Barbara J M ^b,d   Maslen, Cheryl L ^e   Reshey, Benjamin ^e   Doevendans, Pieter A ^a   Bakkers, Jeroen ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

congenital heart defects; Down's syndrome; gene mutation

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; BINDING SITE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DOWN SYNDROME; EMBRYO; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; IN VITRO STUDY; IN VIVO STUDY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; TRANSCRIPTION INITIATION; WILD TYPE; ZEBRA FISH;

ACTIVIN RECEPTORS, TYPE I; ANIMALS; BONE MORPHOGENETIC PROTEIN 1; CATTLE; DOWN SYNDROME; FEMALE; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MALE; MUTATION; PROTEIN CONFORMATION; ZEBRAFISH;

DANIO RERIO;

EID: 79952740595     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.224     Document Type: Article

References (25)

1. Bell R, Rankin J, Donaldson LJ: Down's syndrome: occurrence and outcome in the north of England, 1985-99. Paediatr Perinat Epidemiol 2003; 17: 33-39 (Pubitemid 37128707)
2. Mikkelsen M, Fischer G, Stene J, Stene E, Petersen E: Incidence study of Down's syndrome in Copenhagen, 1960-1971; with chromosome investigation. Ann Hum Genet 1976; 40: 177-182
3. Owens JR, Harris F, Walker S, McAllister E, West L: The incidence of Down's syndrome over a 19-year period with special reference to maternal age. J Med Genet 1983; 20: 90-93 (Pubitemid 13111038)
4. Korenberg JR, Chen XN, Schipper R et al: Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994; 91: 4997-5001 (Pubitemid 24177778)
5. Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM: Down syndrome-recent progress and future prospects. Hum Mol Genet 2009; 18: R75-R83
6. Loffredo CA, Hirata J, Wilson PD, Ferencz C, Lurie IW: Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology 2001; 63: 87-93
7. Paladini D, Tartaglione A, Agangi A et al: The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol 2000; 15: 104-108 (Pubitemid 33108727)
8. Vis JC, Duffels MG, Winter MM et al: Down syndrome: a cardiovascular perspective. J Intellect Disabil Res 2009; 53: 419-425
9. Korenberg JR, Kawashima H, Pulst SM et al: Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 1990; 47: 236-246
10. Kerstann KF, Feingold E, Freeman SB et al: Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol 2004; 27: 240-251 (Pubitemid 39447246)
11. Klewer SE, Krob SL, Kolker SJ, Kitten GT: Expression of type VI collagen in the developing mouse heart. Dev Dyn 1998; 211: 248-255 (Pubitemid 28150608)
12. Gittenberger-de Groot AC, Bartram U, Oosthoek PW et al: Collagen type VI expression during cardiac development and in human fetuses with trisomy 21. Anat Rec A Discov Mol Cell Evol Biol 2003; 275: 1109-1116 (Pubitemid 37486787)
13. Maslen CL, Babcock D, Robinson SW et al: CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A 2006; 140: 2501-2505 (Pubitemid 44684949)
14. Smith KA, Joziasse IC, Chocron S et al: Identification of a dominant-negative ALK2 allele in a family with congenital heart defects. Circulation 2009; 119: 3062-3069
15. van der Velde ET, Vriend JW, Mannens MM et al: CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results. Eur J Epidemiol 2005; 20: 549-557 (Pubitemid 40933933)
16. Prandini P, Deutsch S, Lyle R et al: Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet 2007; 81: 252-263 (Pubitemid 47236074)
17. Hammerschmidt M, Mullins MC: Dorsoventral patterning in the zebrafish: bone morphogenetic proteins and beyond. Results Probl Cell Differ 2002; 40: 72-95
18. ten Dijke P, Yamashita H, Ichijo H et al: Characterization of type I receptors for transforming growth factor-beta and activin Science 1994 264 101-104 (Pubitemid 24144495)
19. Korchynskyi O, ten Dijke P: Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter. J Biol Chem 2002; 277: 4883-4891 (Pubitemid 34968524)
20. Westerfield M: The Zebrafish Book. A Guide for the Laboratory Use of Zebrafish (Danio rerio), 4th edn. Eugene: University of Oregon Press, 2000
21. Sunyaev S, Ramensky V, Bork P: Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet 2000; 16: 198-200 (Pubitemid 30216541)
22. Sunyaev S, Ramensky V, Koch I, Lathe III W, Kondrashov AS, Bork P: Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591-597 (Pubitemid 32229363)
23. Ng PC, Henikoff S: SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814 (Pubitemid 37442253)
24. Mullins MC, Hammerschmidt M, Kane DA et al: Genes establishing dorsoventral pattern formation in the zebrafish embryo: the ventral specifying genes. Development 1996; 123: 81-93 (Pubitemid 27056738)
25. Little SC, Mullins MC: Bone morphogenetic protein heterodimers assemble heteromeric type I receptor complexes to pattern the dorsoventral axis. Nat Cell Biol 2009; 11: 637-643.