Phenotype and Etiology of Pallister/Hall Syndrome

Biesecker, Leslie G.

Abstract

The project is oriented towards the clinical and molecular characterization of patients with Pallister-Hall syndrome and related disorders. In this protocol we perform clinical characterization including radiologic and magnetic imaging, clinical examination, interviews, behavioral and psychiatric evaluation, airway imaging, and other studies. The goal is to document the natural history and range of expressivity of PHS. In addition, we are recruiting patients who have disorders that are related to PHS, either because they are known to be allelic or they have phenotypic overlap. The molecular characterization seeks to define the range of mutations that cause PHS and related disorders. Specifically, how those mutations relate to specific phenotypic effects and to the cell biologic effects of normal and mutant GLI3.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Human Genome Research Institute (NHGRI)
• Type: Intramural Research (Z01)
• Project #: 1Z01HG000009-05
• Application #: 6108953
• Support Year: 5
• Fiscal Year: 1998

Institution

• Name: National Human Genome Research Institute
• Country: United States

Publications

Ng, David; Johnston, Jennifer J; Turner, Joyce T et al. (2004) Gonadal mosaicism in severe Pallister-Hall syndrome. Am J Med Genet A 124:296-302

Turner, Clesson; Killoran, Christina; Thomas, Nick S T et al. (2003) Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet 112:303-9

Biesecker, Leslie G (2003) Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders. Epileptic Disord 5:235-8

Johnston, Jennifer J; Olivos-Glander, Isabelle; Turner, Joyce et al. (2003) Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A 123:236-42

Mykytyn, Kirk; Nishimura, Darryl Y; Searby, Charles C et al. (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet 72:429-37

Biesecker, Leslie G (2002) Coupling genomics and human genetics to delineate basic mechanisms of development. Genet Med 4:39S-42S

Robin, N H; Biesecker, L G (2001) Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 3:290-3

Stone, D L; Slavotinek, A; Bouffard, G G et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 25:79-82

Slavotinek, A M; Stone, E M; Mykytyn, K et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 26:15-6

Ondrey, F; Griffith, A; Van Waes, C et al. (2000) Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. Am J Med Genet 94:64-7