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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy 1, 2, 3 Émilie Landais 1, 2, 4 Sylvain Briault 5 Albert David 6 Olivier Tassy 7 Nicolas Gruchy 8 Bruno Delobel 9 Marie-José Grégoire 10 Bruno Leheup 11, 3, 12 Laurence Taine 13 Didier Lacombe 13 Marie-Ange Delrue 13 Annick Toutain 14 Agathe Paubel 14 Francine Mugneret 15 Christel Thauvin-Robinet 16, 3 Stéphanie Arpin 14 Cédric Le Caignec 6 Philippe Jonveaux 10, 3, 12 Mylène Beri 10 Nathalie Leporrier 8 Jacques Motte 17 Caroline Fiquet 17 Olivier Brichet 17 Monique Mozelle-Nivoix 18, 3 Pascal Sabouraud 17 Nathalie Golovkine 19 Nathalie Bednarek 17 Dominique Gaillard 3, 18, 2 Martine Doco-Fenzy 3, 2, 18, 20
Abstract : The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and array-CGH. Patients exhibited facial dysmorphism (13/14) and brachydactyly (10/14), associated with behavioural problems, autism or autism spectrum disorders of varying severity and overweight or obesity. The deletions in these 14 new patients measured from 2.6 to 8.8 Mb. Although the major role of HDAC4 has been demonstrated, the phenotypic involvement of several other genes in the deleted regions is unknown. We further refined the genotype–phenotype correlation for the 2q37 deletion. To do this, we examined the smallest overlapping deleted region for candidate genes for skeletal malformations (facial dysmorphism and brachydactyly), overweight, behavioural problems and seizures, using clinical data, a review of the literature, and the Manteia database. Among the candidate genes identified, we focus on the roles of PRLH, PER2, TWIST2, CAPN10, KIF1A, FARP2, D2HGDH and PDCD1.
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https://hal.univ-lorraine.fr/hal-01707770
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Submitted on : Tuesday, February 13, 2018 - 10:14:24 AM
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Camille Leroy, Émilie Landais, Sylvain Briault, Albert David, Olivier Tassy, et al.. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602 - 612. ⟨10.1038/ejhg.2012.230⟩. ⟨hal-01707770⟩

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