John Belmont
Baylor College of MedicineDepartment: Molecular & Human GeneticsAddress: 1 Baylor Plaza BCM225, Room T826 Houston, Texas 77030 Phone: 713-798-4634 Fax: 713-798-8142 Email: jbelmont@bcm.edu Web: www.bcm.edu/genetics/faculty/index.html |
Education
B.A., University of Texas, 1974
M.D., Ph.D., Baylor College of Medicine, 1981
Fellow in Medical Genetics, Baylor College of Medicine, 1986
Resident in Pediatrics, Children's Hospital, National Medical Center, Washington, D.C., 1983
Honors
Research Topic
Cardiovascular Genetics
Research Description
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.
Selected Publications
- Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW (2006). Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation. Am. J. Med. Genet. 78: 303-314.
- McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW (2005). Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am. J. Med. Genet. A 134: 180-186.
- Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW (2004). Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am. J. Med. Genet. 74: 93-105.
- Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B (2002). A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development 129: 2293-2302.
- Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF (2001). Enzyme-replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 344: 182-188.
- Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, Casey B (1999). Characterization and mutation analysis of human LEFTY-A and LEFTY-B, homologues of murine genes implicated in left-right axis development. Am. J. Hum. Genet. 64: 712-721.
Lab Members
Lab Photos
Last edited on: December 10, 2007