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

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 '2q...

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Published in:European journal of human genetics : EJHG 2013-06, Vol.21 (6), p.602-612
Main Authors: Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine
Format: Article
Language:English
Subjects:
Adolescent
Adult
Autism
Behavior
Body weight
Brachydactyly
Brachydactyly - complications
Brachydactyly - genetics
Calpain
Cell cycle
Child
Child, Preschool
Chromosome 2
Chromosome Deletion
Chromosome Disorders - complications
Chromosome Disorders - genetics
Chromosome Mapping
Chromosomes, Human, Pair 2 - genetics
Clonal deletion
Collaboration
Comparative Genomic Hybridization
DNA Copy Number Variations - genetics
Female
Fibrous Dysplasia, Polyostotic - complications
Fibrous Dysplasia, Polyostotic - genetics
Fluorescence in situ hybridization
French language
Gene deletion
Gene expression
Genetic Association Studies
Genetics
Genotype & phenotype
Genotypes
Humans
Hybridization
Intellectual disabilities
Intellectual Disability - complications
Intellectual Disability - genetics
Language
Life Sciences
Literature reviews
Male
Obesity
Osteodystrophy
Overweight - complications
Overweight - genetics
Period 2 protein
Phenotypes
Seizures
Young Adult
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Summary: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.
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2012.230