PMID- 27081520
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160415
LR  - 20201001
IS  - 2054-345X (Print)
IS  - 2054-345X (Electronic)
IS  - 2054-345X (Linking)
VI  - 2
DP  - 2015
TI  - DGCR6 at the proximal part of the DiGeorge critical region is involved in 
      conotruncal heart defects.
PG  - 15004
LID - 10.1038/hgv.2015.4 [doi]
AB  - Cardiac anomaly is one of the hallmarks of DiGeorge syndrome (DGS), observed in 
      approximately 80% of patients. It often shows a characteristic morphology, termed 
      as conotruncal heart defects. In many cases showing only the conotruncal heart 
      defect, deletion of 22q11.2 region cannot be detected by fluorescence in situ 
      hybridization (FISH), which is used to detect deletion in DGS. We investigated 
      the presence of genomic aberrations in six patients with congenital conotruncal 
      heart defects, who show no deletion at 22q11.2 in an initial screening by FISH. 
      In these patients, no abnormalities were identified in the coding region of the 
      TBX1 gene, one of the key genes responsible for the phenotype of DGS. However, 
      when copy number alteration was analyzed by high-resolution array analysis, a 
      small deletion or duplication in the proximal end of DiGeorge critical region was 
      detected in two patients. The affected region contains the DGCR6 and PRODH genes. 
      DGCR6 has been reported to affect the expression of the TBX1 gene. Our results 
      suggest that altered dosage of gene(s) other than TBX1, possibly DGCR6, may also 
      be responsible for the development of conotruncal heart defects observed in 
      patients with DGS and, in particular, in those with stand-alone conotruncal heart 
      defects.
FAU - Gao, Wenming
AU  - Gao W
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Higaki, Takashi
AU  - Higaki T
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Eguchi-Ishimae, Minenori
AU  - Eguchi-Ishimae M
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Iwabuki, Hidehiko
AU  - Iwabuki H
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Wu, Zhouying
AU  - Wu Z
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Yamamoto, Eiichi
AU  - Yamamoto E
AD  - Department of Pediatrics, Ehime prefecture central hospital , Matsuyama, Japan.
FAU - Takata, Hidemi
AU  - Takata H
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Ohta, Masaaki
AU  - Ohta M
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Imoto, Issei
AU  - Imoto I
AD  - Department of Human Genetics, Institute of Health Biosciences, The University of 
      Tokushima Graduate School , Tokushima, Japan.
FAU - Ishii, Eiichi
AU  - Ishii E
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
FAU - Eguchi, Mariko
AU  - Eguchi M
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, 
      Ehime, Japan.
LA  - eng
PT  - Journal Article
DEP - 20150212
PL  - England
TA  - Hum Genome Var
JT  - Human genome variation
JID - 101652445
PMC - PMC4785558
EDAT- 2015/01/01 00:00
MHDA- 2015/01/01 00:01
PMCR- 2015/02/12
CRDT- 2016/04/16 06:00
PHST- 2014/11/05 00:00 [received]
PHST- 2014/12/12 00:00 [revised]
PHST- 2014/12/17 00:00 [accepted]
PHST- 2016/04/16 06:00 [entrez]
PHST- 2015/01/01 00:00 [pubmed]
PHST- 2015/01/01 00:01 [medline]
PHST- 2015/02/12 00:00 [pmc-release]
AID - hgv20154 [pii]
AID - 10.1038/hgv.2015.4 [doi]
PST - epublish
SO  - Hum Genome Var. 2015 Feb 12;2:15004. doi: 10.1038/hgv.2015.4. eCollection 2015.