title: The early history of Pallister-Hall syndrome-Buried treasure of a sort.
abstract: Pallister-Hall syndrome was initially recognized under fairly unique circumstances involving exhumation of the very first case. The first two cases had dramatic and unusual features including a hypothalamic hamartoblastoma, imperforate anus, an unusual type of polydactyly with the extra digit being central, hypopituitarism with secondary hypoadrenalism, and lethality after birth (probably due to hypoadrenalism). Within a short time frame, four additional cases were identified. As the full spectrum and variability of anomalies was recognized, it became clear that it was not such a rare disorder. Shortly after familial cases were recognized, the responsible gene was identified at GLI3. However, since other different conditions also involved GLI3, elaborating the domains of the gene and the types of mutations needed to be defined in order to have a clear correlation of the genotype-phenotype relations.
authors.affiliation: Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, BC Children's Hospital, 4500 Oak Street, Room C234, Vancouver, BC V6H 3N1, Canada. Electronic address: jhall@cw.bc.ca.
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D001344:Autopsy; D049249:Exhumation; D015870:Gene Expression; D005804:Genes, Lethal; D056726:Genetic Association Studies; D049673:History, 20th Century; D006801:Humans; D007231:Infant, Newborn; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D054975:Pallister-Hall Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000266:history* / Q000473:pathology; D000074290:Zinc Finger Protein Gli3
chemical_list: C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D000074290:Zinc Finger Protein Gli3
keywords: Dominant negative mutation; Exhumation; GLI3; Hypothalamic hamartoblastoma; Imperforate anus; Lethal syndrome; Pallister–Hall syndrome; Polydactyly