9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

doi:10.1038/ejhg.2015.202

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Article

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

European journal of human genetics : EJHG - 1 Jun 2016

Nambot Sophie, Masurel Alice, El Chehadeh Salima, Mosca-Boidron Anne-Laure, Thauvin-Robinet Christel, Lefebvre Mathilde, Marle Nathalie, Thevenon Julien, Perez-Martin Stéphanie, Dulieu Véronique, Huet Frédéric, Plessis Ghislaine, Andrieux Joris, Jouk Pierre-Simon, Billy-Lopez Gipsy, Coutton Charles, Morice-Picard Fanny, Delrue Marie-Ange, Heron Delphine, Rooryck Caroline, Goldenberg Alice, Saugier-Veber Pascale, Joly-Hélas Géraldine, Calenda Patricia, Kuentz Paul, Manouvrier-Hanu Sylvie, Dupuis-Girod Sophie, Callier Patrick, Faivre Laurence

Abstract excerpt

The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11,...

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Identifiers

PMID: 26395556
DOI: 10.1038/ejhg.2015.202
PMCID: PMC4867444

Genes

ENG
STXBP1

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