PMID- 23073310
OWN - NLM
STAT- MEDLINE
DCOM- 20131021
LR  - 20220318
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 21
IP  - 6
DP  - 2013 Jun
TI  - The 2q37-deletion syndrome: an update of the clinical spectrum including 
      overweight, brachydactyly and behavioural features in 14 new patients.
PG  - 602-12
LID - 10.1038/ejhg.2012.230 [doi]
AB  - 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.
FAU - Leroy, Camille
AU  - Leroy C
AD  - CHU-Reims, HMB, Service de genetique, Reims, France.
FAU - Landais, Emilie
AU  - Landais E
FAU - Briault, Sylvain
AU  - Briault S
FAU - David, Albert
AU  - David A
FAU - Tassy, Olivier
AU  - Tassy O
FAU - Gruchy, Nicolas
AU  - Gruchy N
FAU - Delobel, Bruno
AU  - Delobel B
FAU - Gregoire, Marie-Jose
AU  - Gregoire MJ
FAU - Leheup, Bruno
AU  - Leheup B
FAU - Taine, Laurence
AU  - Taine L
FAU - Lacombe, Didier
AU  - Lacombe D
FAU - Delrue, Marie-Ange
AU  - Delrue MA
FAU - Toutain, Annick
AU  - Toutain A
FAU - Paubel, Agathe
AU  - Paubel A
FAU - Mugneret, Francine
AU  - Mugneret F
FAU - Thauvin-Robinet, Christel
AU  - Thauvin-Robinet C
FAU - Arpin, Stephanie
AU  - Arpin S
FAU - Le Caignec, Cedric
AU  - Le Caignec C
FAU - Jonveaux, Philippe
AU  - Jonveaux P
FAU - Beri, Mylene
AU  - Beri M
FAU - Leporrier, Nathalie
AU  - Leporrier N
FAU - Motte, Jacques
AU  - Motte J
FAU - Fiquet, Caroline
AU  - Fiquet C
FAU - Brichet, Olivier
AU  - Brichet O
FAU - Mozelle-Nivoix, Monique
AU  - Mozelle-Nivoix M
FAU - Sabouraud, Pascal
AU  - Sabouraud P
FAU - Golovkine, Nathalie
AU  - Golovkine N
FAU - Bednarek, Nathalie
AU  - Bednarek N
FAU - Gaillard, Dominique
AU  - Gaillard D
FAU - Doco-Fenzy, Martine
AU  - Doco-Fenzy M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121017
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - Chromosome 2q37 deletion syndrome
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Behavior
MH  - Brachydactyly/*complications/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*complications/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Comparative Genomic Hybridization
MH  - DNA Copy Number Variations/genetics
MH  - Female
MH  - Fibrous Dysplasia, Polyostotic/*complications/*genetics
MH  - Genetic Association Studies
MH  - Humans
MH  - Intellectual Disability/*complications/*genetics
MH  - Male
MH  - Overweight/*complications/*genetics
MH  - Young Adult
PMC - PMC3658200
EDAT- 2012/10/18 06:00
MHDA- 2013/10/22 06:00
PMCR- 2014/06/01
CRDT- 2012/10/18 06:00
PHST- 2012/10/18 06:00 [entrez]
PHST- 2012/10/18 06:00 [pubmed]
PHST- 2013/10/22 06:00 [medline]
PHST- 2014/06/01 00:00 [pmc-release]
AID - ejhg2012230 [pii]
AID - 10.1038/ejhg.2012.230 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 
      17.