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

Sophie Nambot 1 Alice Masurel 1 Salima El Chehadeh 2 Anne-Laure Mosca-Boidron 3, 4 Christel Thauvin-Robinet 1, 3 Mathilde Lefebvre Nathalie Marle 3, 4 Julien Thevenon 3 Stéphanie Perez-Martin 1 Véronique Dulieu 5 Frédéric Huet 6 Ghislaine Plessis 7 Joris Andrieux 8 Pierre-Simon Jouk 9 Gipsy Billy-Lopez 10 Charles Coutton 11 Fanny Morice-Picard 12 Marie-Ange Delrue 13 Delphine Heron 14, 15 Caroline Rooryck 16 Alice Goldenberg 17 Pascale Saugier-Veber 18 Géraldine Joly-Hélas 17 Paul Kuentz 3 Sylvie Manouvrier-Hanu 8 Sophie Dupuis-Girod 19 Patrick Callier 3, 4 Laurence Faivre 1, *
Abstract : 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, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneousmucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01400905
Contributeur : Gad - Université de Bourgogne <>
Soumis le : mardi 22 novembre 2016 - 16:09:54
Dernière modification le : mercredi 7 octobre 2020 - 13:20:04

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Sophie Nambot, Alice Masurel, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Christel Thauvin-Robinet, et al.. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩. ⟨hal-01400905⟩

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