John Belmont, M.D., Ph.D.
Professor, Molecular and Human Genetics, Immunology, Pediatrics
Baylor College of Medicine
B.A., University of Texas, 1974
M.D., Ph.D., Baylor College of Medicine, 1981
Fellow, Medical Genetics, Baylor College of Medicine, 1986
Resident, Pediatrics, Children's Hospital, National Medical Center, Washington, D.C., 1983
Congenital heart defects occur in about seven per 1000 live births. We are analyzing several clinical disorders that provide specific routes to gene identification. One project focuses on the underlying basis for CHARGE Syndrome. CHARGE is a complex phenotype that involves the development of the eye, ear, cranial nerves, brain, genitourinary system, and heart. Recently a gene, CHD7, has been found to cause CHARGE in about 60% of patients. Using a large set of CHARGE cases we have characterized the mutational spectrum in CHD7. We are using microarray technology to screen for deletion alleles that may point to additional genetic loci involved in CHARGE.
- Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco L, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Chinault AC, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L and Belmont JW. MCTP2 is a dosage sensitive gene required for cardiac outflow tract development. Hum Mol Genet, [Epub ahead of print] (2013). PubMed
- Couch RB, Atmar RL, Franco LM, Quarles JM, Wells J, Arden N, Niño D and Belmont JW. Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase. J Infect Dis, 207(6):974-81 (2013). PubMed
- Bucasas KL, Mian AI, Demmler-Harrison GJ, Caviness AC, Piedra PA, Franco LM, Shaw CA, Zhai Y, Wang X, Bray MS, Couch RB and Belmont JW. Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks. Pediatr Infect Dis J, 32(2):e68-76 (2013). PubMed
- Jiang Z, Zhu L, Hu L, Slesnick TC, Pautler RG, Justice MJ and Belmont JW. Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development. Hum Mol Genet, 22(5):879-89 (2013). PubMed
- Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL and Belmont JW. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet, 21(2):173-81 (2013). PubMed
- Couch RB, Atmar RL, Franco LM, Quarles JM, Niño D, Wells JM, Arden N, Cheung S and Belmont JW. Prior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults. Clin Infect Dis, 54(3):311-7 (2012). PubMed
- Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ and Lupski JR. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet, 43(11):1074-81 (2011). PubMed
For more publications, see listing on PubMed.
Department: Molecular & Human Genetics
Address: 1 Baylor Plaza
BCM225, Room T826
Houston, Texas 77030
Additional Links: Molecular and Human Genetics