Identification of a Novel Deletion Region in 3q29 Microdeletion Syndrome by Oligonucleotide Array Comparative Genomic Hybridization.
10.3343/kjlm.2010.30.1.70
- Author:
Eul Ju SEO
1
;
Kyung Ran JUN
;
Han Wook YOO
;
Hanik K YOO
;
Jin Ok LEE
Author Information
1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ejseo@amc.seoul.kr
- Publication Type:Case Reports ; English Abstract
- Keywords:
Chromosome disorders;
Chromosome deletion;
Human chromosome pair 3;
Microarray analysis;
Comparative genomic hybridization
- MeSH:
Adaptor Proteins, Signal Transducing/genetics;
Adolescent;
Attention Deficit Disorder with Hyperactivity/genetics;
Basic Helix-Loop-Helix Transcription Factors/genetics;
*Chromosome Deletion;
Chromosome Disorders/*genetics;
*Chromosomes, Human, Pair 3;
Comparative Genomic Hybridization/*methods;
Diseases in Twins/*genetics;
Female;
Homeodomain Proteins/genetics;
Humans;
In Situ Hybridization, Fluorescence;
Melanoma-Specific Antigens/genetics;
Membrane Proteins/genetics;
Oligonucleotide Array Sequence Analysis;
Syndrome;
Twins;
p21-Activated Kinases/genetics
- From:The Korean Journal of Laboratory Medicine
2010;30(1):70-75
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND: The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between low-copy repeats (LCRs). We identified a novel 4.0- Mb deletion using oligonucleotide array comparative genomic hybridization (array CGH) in monozygotic twin sisters. METHODS: G-banded chromosome analysis was performed in the twins and their parents. Highresolution oligonucleotide array CGH was performed using the human whole genome 244K CGH microarray (Agilent Technologies, USA) followed by validation using FISH, and the obtained results were analyzed using the genome database resources. RESULTS: G-banding revealed that the twins had de novo 46,XX,del(3)(q29) karyotype. Array CGH showed a 4.0-Mb interstitial deletion on 3q29, which contained 39 genes and no breakpoints flanked by LCRs. In addition to the typical characteristics of the 3q29 microdeletion syndrome, the twins had attention deficit-hyperactivity disorder, strabismus, congenital heart defect, and gray hair. Besides the p21-activated protein kinase (PAK2) and discs large homolog 1 (DLG1) genes, which are known to play a critical role in mental retardation, the hairy and enhancer of split 1 (HES1) and antigen p97 (melanoma associated; MFI2) genes might be possible candidate genes associated with strabismus, congenital heart defect, and gray hair. CONCLUSIONS: The novel 4.0-Mb 3q29 microdeletion found in the twins suggested the occurrence of genomic rearrangement mediated by mechanisms other than nonallelic homologous recombination. Molecular genetic and functional studies are required to elucidate the contribution of each gene to a specific phenotype.
