The early history of Pallister–Hall syndrome—Buried treasure of a sort

Gene

Volumn 589, Issue 2, 2016, Pages 100-103

  Hall, J G ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Dominant negative mutation; Exhumation; GLI3; Hypothalamic hamartoblastoma; Imperforate anus; Lethal syndrome; Pallister Hall syndrome; Polydactyly

Indexed keywords

ANUS ATRESIA; ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; EXHUMATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOPITUITARISM; LETHALITY; MODIFIER GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLISTER HALL SYNDROME; POLYDACTYLY; PRACTICE GUIDELINE; PRIORITY JOURNAL; TUMOR DIAGNOSIS; AUTOPSY; CASE REPORT; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; HISTORY; LETHAL GENE; MALE; MUTATION; NEWBORN; PALLISTER-HALL SYNDROME; PATHOLOGY;

GLI3 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; NERVE PROTEIN;

AUTOPSY; EXHUMATION; GENE EXPRESSION; GENES, LETHAL; GENETIC ASSOCIATION STUDIES; HISTORY, 20TH CENTURY; HUMANS; INFANT, NEWBORN; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MUTATION; NERVE TISSUE PROTEINS; PALLISTER-HALL SYNDROME;

EID: 84954357611     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2016.01.003     Document Type: Article

References (9)

1. Biesecker, L.G., GLI3 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes. Epstein, C.J., Erickson, R.P., Wynshaw-Boris, A., (eds.) Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis, 2004, New York, NY, Oxford University Press, 257–264.
2. Biesecker, L.G., What you can learn from one gene: GLI3. J. Med. Genet. 43 (2006), 465–469.
3. Biesecker, L.G., Pallister–Hall syndrome and Greig cephalopolysyndactyly syndrome. Cassidy, S.B., Allison, J.E., (eds.) In Management of Genetic Syndromes, third ed., 2010, Hoboken, NJ: John Wiley & Sons, Inc., 615–624.
4. Biesecker, L.G., Abbott, M., Allen, J., Clericuzio, C., Feuillan, P., Graham, J.M., Hall, J., Kang, S., Olney, A.H., Lefton, D., Neri, G., Peters, K., Verloes, A., Report from the workshop on Pallister–Hall syndrome and related phenotypes. Am. J. Med. Genet. 65 (1996), 76–81.
5. Clarren, S.K., Alvord, E.C. Jr., Hall, J.G., Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: neuropathological considerations. Am. J. Med. Genet. 7 (1980), 75–83.
6. Hall, J.G., Pallister–Hall syndrome has gone the way of modern medical genetics. Am. J. Med. Genet. C Semin. Med. Genet. 166C (2014), 414–418.
7. Hall, J.G., Pallister, P.D., Clarren, S.K., Beckwith, J.B., Wiglesworth, F.W., Fraser, F.C., Cho, S., Benke, P.J., Reed, S.D., Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly—a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am. J. Med. Genet. 7 (1980), 47–74.
8. Johnston, J.J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J.T., Peters, K.F., Abbott, M.H., Aughton, D.J., Aylsworth, A.S., Bamshad, M.J., Booth, C., Curry, C.J., David, A., Dinulos, M.B., Flannery, D.B., Fox, M.A., Graham, J.M., Grange, D.K., Guttmacher, A.E., Hannibal, M.C., Henn, W., Hennekam, R.C., Holmes, L.B., Hoyme, H.E., Leppig, K.A., Lin, A.E., Macleod, P., Manchester, D.K., Marcelis, C., Mazzanti, L., McCann, E., McDonald, M.T., Mendelsohn, N.J., Moeschler, J.B., Moghaddam, B., Neri, G., Newbury-Ecob, R., Pagon, R.A., Phillips, J.A., Sadler, L.S., Stoler, J.M., Tilstra, D., Walsh Vockley, C.M., Zackai, E.H., Zadeh, T.M., Brueton, L., Black, G.C., Biesecker, L.G., Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister–Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am. J. Hum. Genet. 76 (2005), 609–622.
9. Kang, S., Graham, J.M. Jr., Olney, A.H., Biesecker, L.G., GLI3 frameshift mutations cause autosomal dominant Pallister–Hall syndrome. Nat. Genet. 15 (1997), 266–268.