PMID- 24129437
OWN - NLM
STAT- MEDLINE
DCOM- 20141118
LR  - 20220311
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 22
IP  - 4
DP  - 2014 Apr
TI  - Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, 
      and MYT1L genes.
PG  - 471-9
LID - 10.1038/ejhg.2013.189 [doi]
AB  - Obesity is a common but highly, clinically, and genetically heterogeneous 
      disease. Deletion of the terminal region of the short arm of chromosome 2 is rare 
      and has been reported in about 13 patients in the literature often associated 
      with a Prader-Willi-like phenotype. We report on five unrelated patients with 
      2p25 deletion of paternal origin presenting with early-onset obesity, 
      hyperphagia, intellectual deficiency, and behavioural difficulties. Among these 
      patients, three had de novo pure 2pter deletions, one presented with a paternal 
      derivative der(2)t(2;15)(p25.3;q26) with deletion in the 2pter region and the 
      last patient presented with an interstitial 2p25 deletion. The size of the 
      deletions was characterized by SNP array or array-CGH and was confirmed by 
      fluorescence in situ hybridization (FISH) studies. Four patients shared a 2p25.3 
      deletion with a minimal critical region estimated at 1.97 Mb and encompassing 
      seven genes, namely SH3HYL1, ACP1, TMEMI8, SNTG2, TPO, PXDN, and MYT1L genes. The 
      fifth patient had a smaller interstitial deletion encompassing the TPO, PXDN, and 
      MYT1L genes. Paternal origin of the deletion was determined by genotyping using 
      microsatellite markers. Analysis of the genes encompassed in the deleted region 
      led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved 
      in early-onset obesity. In addition, intellectual deficiency and behavioural 
      troubles can be explained by the heterozygous loss of the SNTG2 and MYT1L genes. 
      Finally, we discuss the parent-of-origin of the deletion.
FAU - Doco-Fenzy, Martine
AU  - Doco-Fenzy M
AD  - Service de Genetique, Hopital Maison-Blanche, CHRU, UFR de Medecine, Reims, 
      France.
FAU - Leroy, Camille
AU  - Leroy C
AD  - Service de Genetique, Hopital Maison-Blanche, CHRU, UFR de Medecine, Reims, 
      France.
FAU - Schneider, Anouck
AU  - Schneider A
AD  - Departement de Genetique Medicale, CHRU Montpellier, Faculte de Medecine de 
      Montpellier-Nimes, Universite Montpellier 1, Montpellier, France.
FAU - Petit, Florence
AU  - Petit F
AD  - Service de Genetique, CHU de Lille, Lille, France.
FAU - Delrue, Marie-Ange
AU  - Delrue MA
AD  - Service de Genetique Medicale, Laboratoire MRGM, (EA 4576), CHRU de Bordeaux, 
      Bordeaux, France.
FAU - Andrieux, Joris
AU  - Andrieux J
AD  - Service de Genetique, CHU de Lille, Lille, France.
FAU - Perrin-Sabourin, Laurence
AU  - Perrin-Sabourin L
AD  - Federation de Genetique, Hopital Robert Debre, APHP Paris, Paris, France.
FAU - Landais, Emilie
AU  - Landais E
AD  - Service de Genetique, Hopital Maison-Blanche, CHRU, UFR de Medecine, Reims, 
      France.
FAU - Aboura, Azzedine
AU  - Aboura A
AD  - Federation de Genetique, Hopital Robert Debre, APHP Paris, Paris, France.
FAU - Puechberty, Jacques
AU  - Puechberty J
AD  - 1] Departement de Genetique Medicale, CHRU Montpellier, Faculte de Medecine de 
      Montpellier-Nimes, Universite Montpellier 1, Montpellier, France [2] Plateforme 
      puce a ADN, CHRU Montpellier, Universite Montpellier 1, Montpellier, France.
FAU - Girard, Manon
AU  - Girard M
AD  - Plateforme puce a ADN, CHRU Montpellier, Universite Montpellier 1, Montpellier, 
      France.
FAU - Tournaire, Magali
AU  - Tournaire M
AD  - Plateforme puce a ADN, CHRU Montpellier, Universite Montpellier 1, Montpellier, 
      France.
FAU - Sanchez, Elodie
AU  - Sanchez E
AD  - Departement de Genetique Medicale, CHRU Montpellier, Faculte de Medecine de 
      Montpellier-Nimes, Universite Montpellier 1, Montpellier, France.
FAU - Rooryck, Caroline
AU  - Rooryck C
AD  - Service de Genetique Medicale, Laboratoire MRGM, (EA 4576), CHRU de Bordeaux, 
      Bordeaux, France.
FAU - Ameil, Agnes
AU  - Ameil A
AD  - Service de Pediatrie, American Memorial Hospital, CHRU, Reims, France.
FAU - Goossens, Michel
AU  - Goossens M
AD  - Laboratoire de Genetique, AP-HP, et INSERM U-841, CHU Henri Mondor, Creteil, 
      France.
FAU - Jonveaux, Philippe
AU  - Jonveaux P
AD  - Service de Genetique, CHRU de Nancy-Brabois, Inserm U954, Universite de Lorraine, 
      Nancy, France.
FAU - Lefort, Genevieve
AU  - Lefort G
AD  - 1] Departement de Genetique Medicale, CHRU Montpellier, Faculte de Medecine de 
      Montpellier-Nimes, Universite Montpellier 1, Montpellier, France [2] Plateforme 
      puce a ADN, CHRU Montpellier, Universite Montpellier 1, Montpellier, France.
FAU - Taine, Laurence
AU  - Taine L
AD  - Service de Genetique Medicale, Laboratoire MRGM, (EA 4576), CHRU de Bordeaux, 
      Bordeaux, France.
FAU - Cailley, Dorothee
AU  - Cailley D
AD  - Service de Genetique Medicale, Laboratoire MRGM, (EA 4576), CHRU de Bordeaux, 
      Bordeaux, France.
FAU - Gaillard, Dominique
AU  - Gaillard D
AD  - Service de Genetique, Hopital Maison-Blanche, CHRU, UFR de Medecine, Reims, 
      France.
FAU - Leheup, Bruno
AU  - Leheup B
AD  - CHU de Nancy, Pole Enfant, Service de genetique clinique, Vandoeuvre les nancy, 
      F-54511, France.
FAU - Sarda, Pierre
AU  - Sarda P
AD  - Departement de Genetique Medicale, CHRU Montpellier, Faculte de Medecine de 
      Montpellier-Nimes, Universite Montpellier 1, Montpellier, France.
FAU - Genevieve, David
AU  - Genevieve D
AD  - Departement de Genetique Medicale, CHRU Montpellier, Faculte de Medecine de 
      Montpellier-Nimes, Universite Montpellier 1, Montpellier, France.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131016
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (MYT1L protein, human)
RN  - 0 (Membrane Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (TMEM18 protein, human)
RN  - 0 (Transcription Factors)
RN  - EC 3.1.3.48 (ACP1 protein, human)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatases)
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Nerve Tissue Proteins/*genetics
MH  - Obesity/complications/diagnosis/*genetics
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Prader-Willi Syndrome/complications/genetics
MH  - Protein Tyrosine Phosphatases/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Sequence Analysis, DNA
MH  - *Sequence Deletion
MH  - Transcription Factors/*genetics
PMC - PMC3953915
EDAT- 2013/10/17 06:00
MHDA- 2014/11/19 06:00
PMCR- 2015/04/01
CRDT- 2013/10/17 06:00
PHST- 2013/02/22 00:00 [received]
PHST- 2013/06/24 00:00 [revised]
PHST- 2013/07/24 00:00 [accepted]
PHST- 2013/10/17 06:00 [entrez]
PHST- 2013/10/17 06:00 [pubmed]
PHST- 2014/11/19 06:00 [medline]
PHST- 2015/04/01 00:00 [pmc-release]
AID - ejhg2013189 [pii]
AID - 10.1038/ejhg.2013.189 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2014 Apr;22(4):471-9. doi: 10.1038/ejhg.2013.189. Epub 2013 Oct 
      16.