PMID- 34132911
OWN - NLM
STAT- MEDLINE
DCOM- 20220107
LR  - 20220107
IS  - 1364-6753 (Electronic)
IS  - 1364-6745 (Linking)
VI  - 22
IP  - 3
DP  - 2021 Jul
TI  - Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and 
      behavioral problems.
PG  - 195-206
LID - 10.1007/s10048-021-00653-6 [doi]
AB  - Microarray-based comparative genomic hybridization (aCGH) is being increasingly 
      applied to delineate novel genomic disorders and related syndromes in patients 
      with developmental delay. In this study, detailed clinical and cytogenetic data 
      of three unrelated patients with interstitial 2q12.3q13 microdeletion were 
      described and compared with thirteen 2q12.3q13 microdeletion patients, gathered 
      from the medical literature and public databases. 60 K aCGH analysis revealed 
      three overlapping 2q12.3q13 microdeletions measuring 1.88 Mb in patient 1, 
      1.25 Mb in patient 2, and 0.41 Mb in patient 3, respectively. Confirmation and 
      segregation studies were performed using fluorescence in situ hybridization 
      (FISH) and quantitative real-time PCR. Variable clinical features of 2q12.3q13 
      microdeletion including microcephaly, prenatal growth retardation, developmental 
      delay, short stature, behavioral problems, learning difficulties, skeletal 
      anomalies, congenital heart defects, and features of ectodermal dysplasia were 
      observed. The boundaries and sizes of the 2q12.3q13 deletions in the sixteen 
      patients were different, but an overlapping region of 249 kb in 2q12.3 was 
      defined. The SRO (smallest region of overlap) encompasses four genes, including 
      LIMS1, RANBP2, CCDC138, and EDAR. Among these genes, RANBP2 is a strong candidate 
      gene for neurological phenotype and genetic susceptibility to viral infections. 
      To our knowledge, this is the first published report of 2q12.3q13 microdeletion 
      syndrome and our observations strongly suggest that these recurrent CNVs may be a 
      novel risk factor for developmental delay with variable expressivity and 
      incomplete penetrance.
FAU - Huynh, Minh-Tuan
AU  - Huynh MT
AUID- ORCID: 0000-0002-9183-7345
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 9 quai 
      Moncousu, 44093, Nantes cedex 1, France. minhtuannia82@yahoo.it.
FAU - Gerard, Marion
AU  - Gerard M
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Caen, Caen, 
      France.
FAU - Ranguin, Kara
AU  - Ranguin K
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Caen, Caen, 
      France.
FAU - Pichon, Olivier
AU  - Pichon O
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 9 quai 
      Moncousu, 44093, Nantes cedex 1, France.
FAU - Ghesh, Leila
AU  - Ghesh L
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 9 quai 
      Moncousu, 44093, Nantes cedex 1, France.
FAU - Alfallaj, Khalid
AU  - Alfallaj K
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 9 quai 
      Moncousu, 44093, Nantes cedex 1, France.
FAU - Joubert, Madeleine
AU  - Joubert M
AD  - Service D'anatomie Et Cytologie Pathologiques, Centre Hospitalier Universitaire 
      de Nantes, Nantes, France.
FAU - Bezieau, Stephane
AU  - Bezieau S
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 9 quai 
      Moncousu, 44093, Nantes cedex 1, France.
AD  - Universite de Nantes, CNRS, INSERM, L'institut du Thorax, 44000, Nantes, France.
FAU - Beneteau, Claire
AU  - Beneteau C
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 9 quai 
      Moncousu, 44093, Nantes cedex 1, France.
LA  - eng
PT  - Journal Article
DEP - 20210616
PL  - United States
TA  - Neurogenetics
JT  - Neurogenetics
JID - 9709714
RN  - Chromosome 3, monosomy 3q13
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 3/genetics
MH  - Comparative Genomic Hybridization/methods
MH  - Female
MH  - Genomics/methods
MH  - Genotype
MH  - Humans
MH  - Phenotype
MH  - Pregnancy
MH  - *Problem Behavior
OTO - NOTNLM
OT  - Behavioral problems
OT  - Developmental delay
OT  - Novel 2q12.3q13 microdeletion syndrome
OT  - RANBP2
OT  - Smallest region of overlap
OT  - Susceptibility to viral infections
EDAT- 2021/06/17 06:00
MHDA- 2022/01/08 06:00
CRDT- 2021/06/16 12:28
PHST- 2021/01/19 00:00 [received]
PHST- 2021/06/08 00:00 [accepted]
PHST- 2021/06/17 06:00 [pubmed]
PHST- 2022/01/08 06:00 [medline]
PHST- 2021/06/16 12:28 [entrez]
AID - 10.1007/s10048-021-00653-6 [pii]
AID - 10.1007/s10048-021-00653-6 [doi]
PST - ppublish
SO  - Neurogenetics. 2021 Jul;22(3):195-206. doi: 10.1007/s10048-021-00653-6. Epub 2021 
      Jun 16.