9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping - Université de Bourgogne Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 2016

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

Mathilde Lefebvre
  • Fonction : Auteur
Ghislaine Plessis
  • Fonction : Auteur
EDF
Caroline Rooryck
  • Fonction : Auteur
Paul Kuentz

Résumé

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.

Dates et versions

hal-01400905 , version 1 (22-11-2016)

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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, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩. ⟨hal-01400905⟩
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