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New insights into genotype-phenotype correlation for GLI3 mutations.

Authors: Démurger, Florence  Ichkou, Amale  Mougou-Zerelli, Soumaya  Le Merrer, Martine  Goudefroye, Géraldine  Delezoide, Anne-Lise  Quélin, Chloé  Manouvrier, Sylvie  Baujat, Geneviève  Fradin, Mélanie  Pasquier, Laurent  Megarbané, André  Faivre, Laurence  Baumann, Clarisse  Nampoothiri, Sheela  Roume, Joëlle  Isidor, Bertrand  Lacombe, Didier  Delrue, Marie-Ange  Mercier, Sandra  Philip, Nicole  Schaefer, Elise  Holder, Muriel  Krause, Amanda  Laffargue, Fanny  Sinico, Martine  Amram, Daniel  André, Gwenaelle  Liquier, Alain  Rossi, Massimiliano  Amiel, Jeanne  Giuliano, Fabienne  Boute, Odile  Dieux-Coeslier, Anne  Jacquemont, Marie-Line  Afenjar, Alexandra  Van Maldergem, Lionel  Lackmy-Port-Lis, Marylin  Vincent-Delorme, Catherine  Chauvet, Marie-Liesse  Cormier-Daire, Valérie  Devisme, Louise  Geneviève, David  Munnich, Arnold  Viot, Géraldine  Raoul, Odile  Romana, Serge  Gonzales, Marie  Encha-Razavi, Ferechte  Odent, Sylvie  Vekemans, Michel  Attie-Bitach, Tania 
Citation: Démurger F, etal., Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16.
Pubmed: (View Article at PubMed) PMID:24736735
DOI: Full-text: DOI:10.1038/ejhg.2014.62

The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was first described as a lethal condition associating hypothalamic hamartoma, postaxial or central polydactyly, anal atresia and bifid epiglottis. Typical GCPS combines polysyndactyly of hands and feet and craniofacial features. Genotype-phenotype correlations have been found both for the location and the nature of GLI3 mutations, highlighting the bifunctional nature of GLI3 during development. Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). Most of mutations are novel and consistent with the previously reported genotype-phenotype correlation. Our results also show a correlation between the location of the mutation and abnormal corpus callosum observed in some patients with GCPS. Fetal PHS observations emphasize on the possible lethality of GLI3 mutations and extend the phenotypic spectrum of malformations such as agnathia and reductional limbs defects. GLI3 expression studied by in situ hybridization during human development confirms its early expression in target tissues.

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CRRD Object Information
CRRD ID: 12738205
Created: 2017-01-30
Species: All species
Last Modified: 2017-01-30
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.