Barbara Pober

Associate Professor of Genetics and Pediatrics

A.B. Yale College, 1973
M.D. Yale University, 1978
M.P.H. Harvard School of Public Health, 1983

Research Interests:

Clinical Genetics
Dysmorphology
Williams Syndrome

I am a Dysmorphologist/Clinical Geneticist involved in diagnosis and counselling for birth defects and inherited disorders.

Current Clinical Studies

My major research focuses on a rare genetic microdeletion disorder, Williams syndrome. From my involvement in the diagnosis and management of large numbers of patients with Williams syndrome, several clinical studies on the natural history of this disorder have emerged. Clinical information and patient samples are being provided in a collaborative fashion to assist in the delineation of the Williams syndrome critical region. Current information suggests that the Williams syndrome deletion is >100 kb in size, involving loss of the gene, elastin, and additional flanking genes as well. Thus, Williams syndrome is likely to be another example of a contiguous gene deletion syndrome.

Representative Publications:

Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HHQ, Costa T, Pober BR, Lew L, Brinkman J, Rommens J, Koop B, and Tsui LC. Identification of genes from a 500-KB region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 36:328-336, 1996.

Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X-linked contiguous gene deletion syndrome? J Med Genet. 35:273-278, 1998.

Broder K, Reinhardt E, Ahern J, Lifton R, Tamborlane W, Pober B. Elevated blood pressure in 20 subjects with Williams syndrome. Am. J. Med. Genet. 83:356-360, 1999.

Cherniske E, Sadler LS, Schwartz D, Carpenter T, Pober BR. Early puberty in Williams syndrome. Clinical Dysmorphology. 8:117-121, 1999.

Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. GATA-4 Haploinsufficiency in patients with interstitial deletions of chromosome 8p23.1 and congenital heart disease. Am. J. Med Genet. 83:210-206, 1999.

Hisama F, Zemel S, Vladutiu GD, Cherniske EM, Vladutiu GD, Pober BR. "46,XX Gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters: a new syndrome. Am. J. Med Genet. (In press)

Updated 1 September 2000