Electrocardiography in Noonan syndrome PTPN11 gene mutation-phenotype characterization

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 350-353

  Croonen, Ellen A ^a   Van Der Burgt, Ineke ^a   Kapusta, Livia ^a   Draaisma, Jos M Th ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cardiac anomaly; Electrocardiogram; Noonan syndrome; PTPN11 gene mutation

Indexed keywords

ARTICLE; CHILD; ELECTROCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; NOONAN SYNDROME; PRIORITY JOURNAL; PTPN11 GENE; Q WAVE; QRS COMPLEX; R WAVE;

CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; ELECTROCARDIOGRAPHY; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 38949158534     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32140     Document Type: Article

References (16)

1. Armengol AJ, Brohet CR, Intermans JP, Vliers A. 1987. Left ventricle in Noonan's syndrome. Electro-vecto-echo and angiocardiographic aspects. Arch Mal Coeur Vaiss 80:445-453.
2. Bertola DR, Kim CA, Sugayama SMM, Albano LMJ, Wagenfuhr J, Moyses RL, Ganzalez CH. 2000. Cardiac findings in 31 patients with Noonan's syndrome. Arq Bras Cardiol 75:409-412.
3. Burch M, Sharland M, Shinebourne E, Smith G, Patton M, mcKenna W. 1993. Cardiologic abnormalities in Noonan syndrome: Phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 22:1189-1192.
4. Calcaterra G, Puglisi R. 1989. Left axis deviation in healthy infants and children. Int J Cardiol 24:236-238.
5. Kamiya Y, Oonaka M, Itoi T, Hamaoka K, Onouchi Z. 1994. Relation of electrocardiographic features and distribution of hypertrophy in hypertrophic non-obstructive cardiomyopathy during childhood. J Cardiol 24:91-106.
6. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Siguero JPL, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. 2007. Nat Genet 39:1007-1012.
7. Park MK. 1996. Pediatric cardiology for practitioners. St. Louis: Mosby. 540 p.
8. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. 2007. Germline gain-of-function in SOS1 cause Noonan syndrome. Nat Genet 39:70-74.
9. Sanchez-Cascos A. 1983. The Noonan syndrome. Eur Heart J 4: 223-229.
10. Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo VD, Marino B, Pizzuti A, Dallapiccola B. 2003. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40:704-708.
11. Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. 2006. Germline KRAS mutations cause Noonan syndrome. Nat Genet 38:331-336.
12. Sharland M, Burch M, mcKenna WM, Paton MA. 1992. A clinical study of Noonan syndrome. Arch Dis Child 67:178-183.
13. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468.
14. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Geb BD. 2002. PTPN11 mutations in Noonan Syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555-1563.
15. Van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. 1994. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53:187-191.
16. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kresse W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. 2004. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 144:268-274.