title: DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.
abstract: 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.
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Wenming
authors.initials: W
authors.lastname: Gao
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Higaki
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Minenori
authors.initials: M
authors.lastname: Eguchi-Ishimae
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Iwabuki
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Zhouying
authors.initials: Z
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Ehime prefecture central hospital , Matsuyama, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Hidemi
authors.initials: H
authors.lastname: Takata
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Ohta
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine , Toon, Ehime, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Eguchi