Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 542-554

  Iascone, M ^a   Ciccone, R ^b,c   Galletti, L ^a   Marchetti, D ^a   Seddio, F ^a   Lincesso, A R ^a   Pezzoli, L ^a   Vetro, A ^b   Barachetti, D ^a   Boni, L ^d   Federici, D ^a   Soto, A M ^d   Comas, J V ^d   Ferrazzi, P ^a   Zuffardi, O ^b,e  

^a OSPEDALI RIUNITI   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

Cardiac valve development; Copy number variations; Endothelial; Gene mutations; Hypoplastic left heart syndrome; Mesenchymal transformation

Indexed keywords

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; FEMALE; FOXC2 GENE; FOXL1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HAND1 GENE; HEART VALVE; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; MAJOR CLINICAL STUDY; MALE; NKX2 5 GENE; NOTCH1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC VARIATION; GENOME, HUMAN; HOMEODOMAIN PROTEINS; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTOR, NOTCH1; TRANSCRIPTION FACTORS;

EID: 84860555735     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01674.x     Document Type: Article

References (29)

1. Tchervenkov CI, Jacobs JP, Weinberg PM et al. The nomenclature, definition and classification of hypoplastic left heart syndrome. Cardiol Young 2006: 16: 339-368.
2. Bondy CA. Hypoplastic left heart syndrome. N Engl J Med 2010: 362: 2026-2028.
3. Barron DJ, Kilby MD, Davies B et al. Hypoplastic left heart syndrome. Lancet 2009: 374: 551-564.
4. Grossfeld P, Ye M, Harvey R. Hypoplastic left heart syndrome: new genetic insights. J Am Coll Cardiol 2009: 53: 1072-1074.
5. Dasgupta C, Martinez AM, Zuppan CW et al. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 2001: 479: 173-186.
6. Elliott DA, Kirk EP, Yeoh T et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003: 41: 2072-2076.
7. McElhinney DB, Geiger E, Blinder J et al. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003: 42: 1650-1655.
8. Stallmeyer B, Fenge H, Nowak-Gottl U et al. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin Genet 2010: 78: 533-540.
9. Garg V, Muth AN, Ransom JF et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005: 437: 270-274.
10. McBride KL, Riley MF, Zender GA et al. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 2008: 17: 2886-2893.
11. Reamon-Buettner SM, Ciribilli Y, Inga A et al. A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum Mol Genet 2008: 17: 1397-1405.
12. Stankiewicz P, Sen P, Bhatt SS et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009: 84: 780-791.
13. Oyen N, Poulsen G, Boyd HA et al. Recurrence of congenital heart defects in families. Circulation 2009: 120: 295-301.
14. Roessler E, Pei W, Ouspenskaia MV et al. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab 2009: 98: 225-234.
15. Girirajan S, Rosenfeld JA, Cooper GM et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010: 42: 203-209.
16. Vissers LE, de Ligt J, Gilissen C et al. A de novo paradigm for mental retardation. Nat Genet 2010: 42: 1109-1112.
17. Delot EC, Bahamonde ME, Zhao M et al. BMP signaling is required for septation of the outflow tract of the mammalian heart. Development 2003: 130: 209-220.
18. Hata A, Seoane J, Lagna G et al. OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways. Cell 2000: 100: 229-240.
19. Ullmann R, Turner G, Kirchhoff M et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007: 28: 674-682.
20. Sarajuuri A, Jokinen E, Puosi R et al. Neurodevelopment in children with hypoplastic left heart syndrome. J Pediatr 2010: 157: 414-420, 420.e1-4.
21. Paznekas WA, Boyadjiev SA, Shapiro RE et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003: 72: 408-418.
22. Reamon-Buettner SM, Ciribilli Y, Traverso I et al. A functional genetic study identifies HAND1 mutations in septation defects of the human heart. Hum Mol Genet 2009: 18: 3567-3578.
23. Draus JM Jr, Hauck MA, Goetsch M et al. Investigation of somatic NKX2-5 mutations in congenital heart disease. J Med Genet 2009: 46: 115-122.
24. Armstrong EJ, Bischoff J. Heart valve development: endothelial cell signaling and differentiation. Circ Res 2004: 95: 459-470.
25. Riley MF, McBride KL, Cole SE. NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT. Biochim Biophys Acta 2011: 1812: 121-129.
26. Kajiwara K, Berson E, Dryja T. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994: 264: 1604-1608.
27. Katsanis N, Ansley S, Badano J et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001: 293: 2213-2214.
28. Ming J, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002: 71: 1017-1032.
29. Klopocki E, Schulze H, Strauss G et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007: 80: 232-240.