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


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.

SUBMITTER: Leroy C 

PROVIDER: S-EPMC3658200 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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

Leroy Camille C   Landais Emilie E   Briault Sylvain S   David Albert A   Tassy Olivier O   Gruchy Nicolas N   Delobel Bruno B   Grégoire Marie-José MJ   Leheup Bruno B   Taine Laurence L   Lacombe Didier D   Delrue Marie-Ange MA   Toutain Annick A   Paubel Agathe A   Mugneret Francine F   Thauvin-Robinet Christel C   Arpin Stéphanie S   Le Caignec Cedric C   Jonveaux Philippe P   Beri Mylène M   Leporrier Nathalie N   Motte Jacques J   Fiquet Caroline C   Brichet Olivier O   Mozelle-Nivoix Monique M   Sabouraud Pascal P   Golovkine Nathalie N   Bednarek Nathalie N   Gaillard Dominique D   Doco-Fenzy Martine M  

European journal of human genetics : EJHG 20121017 6


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 wit  ...[more]

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