Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1419-1424

  Baban, Anwar ^a   Pitto, Letizia ^b   Pulignani, Silvia ^b   Cresci, Monica ^b   Mariani, Laura ^b   Gambacciani, Carolina ^b   Digilio, Maria Cristina ^a   Pongiglione, Giacomo ^a   Albanese, Sonia ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

Author keywords

Aortic coarctation (COA); Atrioventricular canal defect (AVCD); Holt Oram syndrome (HOS); TBX5

Indexed keywords

ARGININE; MUTANT PROTEIN; TRANSCRIPTION FACTOR TBX5; T BOX TRANSCRIPTION FACTOR; T-BOX TRANSCRIPTION FACTOR 5;

AORTA COARCTATION; ARTICLE; ATRIOVENTRICULAR CANAL DEFECT; BODY POSTURE; BRACHYDACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HOLT ORAM SYNDROME; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; SYNOSTOSIS; TBX5 GENE; THUMB MALFORMATION; ARM MALFORMATION; DNA SEQUENCE; ENDOCARDIAL CUSHION DEFECT; GENETICS; HEART SEPTUM DEFECT; LEG MALFORMATION; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; RADIUS; ULNA;

ABNORMALITIES, MULTIPLE; AORTIC COARCTATION; BASE SEQUENCE; BRACHYDACTYLY; CHILD; ENDOCARDIAL CUSHION DEFECTS; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; MUTATION; RADIUS; SEQUENCE ANALYSIS, DNA; SYNOSTOSIS; T-BOX DOMAIN PROTEINS; ULNA; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 84899977586     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36459     Document Type: Article

References (37)

1. Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE. 1994. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 330:885-891. Erratum in: N Engl J Med 1994. 2; 330: 1627.
2. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. 1997. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15:30-35.
3. Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont ME, Muller CW, Seidman JG, Seidman CE. 1999. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci USA 96:2919-2924.
4. Boehme DH, Shotar AO. 1989. A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family. Clin Genet 36:442-450.
5. Boogerd CJ, Dooijes D, Ilgun A, Mathijssen IB, Hordijk R, van de Laar IM, Rump P, Veenstra-Knol HE, Moorman AF, Barnett P, Postma AV. 2010. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res 88:130-139.
6. Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ. 2003. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet 73:74-85.
7. Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ. 2003. Expressivity of Holt-Oram syndrome is not predicted by tbx5 genotype. Am J Hum Genet 73:74-85.
8. Bruneau BG, Logan M, Davis N, Levi T, Tabin CJ, Seidman JG, Seidman CE. 1999. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol 211:100-108.
9. Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, Seidman JG. 2001. A murine model of Holt-Oram syndrome defines roles of the t-box transcription factor tbx5 in cardiogenesis and disease. Cell 106:709-721.
10. Cross SJ, Ching YH, Li QY, Armstrong-Buisseret L, Spranger S, Lyonnet S, Bonnet D, Penttinen M, Jonveaux P, Leheup B, Mortier G, Van Ravenswaaij C, Gardiner CA. 2000. The mutation spectrum in Holt-Oram syndrome. J Med Genet 37:785-787.
11. Del Corso L, Vannini A, De Marco S, Gnesi A, Pentimone F. 1991. Complete endocardial cushion defect and bone malformations of the hands. Holt-Oram syndrome. Minerva Med 82:683-686.
12. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 1999. Atrioventricular canal defect without Down syndrome: A heterogeneous malformation. Am J Med Genet 85:140-146.
13. Fan C, Liu M, Wang Q. 2003. Functional analysis of tbx5 missense mutations associated with Holt-Oram syndrome. J Biol Chem 278:8780-8785.
14. Garrity DM, Childs S, Fishman MC. 2002. The heartstrings mutation in zebrafish causes heart/fin tbx5 deficiency syndrome. Development 129:4635-4645.
15. Ghosh TK, Packham EA, Bonser AJ, Robinson TE, Cross SJ, Brook JD. 2001. Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum Mol Genet 10:1983-1994.
16. Granados-Riveron JT, Pope M, Bu'Lock FA, Thornborough C, Eason J, Setchfield K, Ketley A, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Brook JD. 2012. Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations. Congenit Heart Dis 7:151-159.
17. Hartman RJ, Riehle-Colarusso T, Lin A, Frias JL, Patel SS, Duwe K, Correa A, Rasmussen SA, The National Birth Defects Prevention Study. 2011. Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005. Am J Med Genet Part A 155A:555-564.
18. He J, McDermott DA, Song Y, Gilbert F, Kligman I, Basson CT. 2004. Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome. Am J Med Genet Part A 126A:93-98.
19. Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG. 2005. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. Heart 91:383-384.
20. Herrmann BG. 1991. Expression pattern of the brachyury gene in whole-mount twis/twis mutant embryos. Development 113:913-917.
21. Holmes LB. 1965. Congenital heart disease and upper-extremity deformities: A report of two families. N Engl J Med 272:437-444.
22. Kumar A, van Mierop LHS, Epsetin ML. 1994. Pathogenetic implications of muscular ventricular septal defect in Holt-Oram syndrome. Am J Cardiol 73:993-995.
23. Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD. 1997. Holt-Oram syndrome is caused by mutations in TBX5, a member of the brachyury (T) gene family. Nat Genet 15:21-29.
24. Marcus RH, Marcus BD, Levin SE. 1985. The upper limb-cardiovascular syndrome (Holt-Oram syndrome) in a South African family. S Afr Med J 67:1013-1014.
25. Marino B, Digilio MC. 2000. Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 9:303-315.
26. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. 2005. Tbx5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res 58:981-986.
27. Mori AD, Bruneau BG. 2004. Tbx5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol 19:211-215.
28. Mori AD, Zhu Y, Vahora I, Nieman B, Koshiba-Takeuchi K, Davidson L, Pizard A, Seidman JG, Seidman CE, Chen XJ, Henkelman RM, Bruneau BG. 2006. Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol 297:566-586.
29. Murakami M, Nakagawa M, Olson EN, Nakagawa O. 2005. A ww domain protein taz is a critical coactivator for tbx5, a transcription factor implicated in Holt-Oram syndrome. Proc Natl Acad Sci USA 102:18034-18039.
30. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. 1996. Holt-Oram syndrome: A clinical genetic study. J Med Genet 33:300-307.
31. Patel C, Silcock L, McMullan D, Brueton L, Cox H. 2012. TBX5 intragenic duplication: A family with an atypical Holt-Oram syndrome phenotype. Eur J Hum Genet 20:863-869.
32. Perry LW, Neill CA, Ferencz C. 1993. Infants with congenital heart disease: The cases. In: Ferencz C, Rubin JD, Loffredo CA, Magee CA, editors. Pediatric cardiology epidemiology of congenital heart disease. The Baltimore-Washington infant study 1981-1989. Mount Kisco, New York: Futura Publishing Company. pp 33-62.
33. Sletten LJ, Pierpont MEM. 1996. Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet 65:128-132.
34. Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MA. 2012. Regulatory variation in a tbx5 enhancer leads to isolated congenital heart disease. Hum Mol Genet 21:3255-3263.
35. Smith AT, Sack GH Jr, Taylor GJ. 1979. Holt-Oram syndrome. J Pediatr 95:538-543.
36. Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD. 1994. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet 6:401-404.
37. Wittkopp N, Huntzinger E, Weiler C, Sauliere J, Schmidt S, Sonawane M, Izaurralde E. 2009. Nonsense-mediated mrna decay effectors are essential for zebrafish embryonic development and survival. Mol Cell Biol 29:3517-3528.