Publication
Title
Congenital Diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
Author
Abstract
Congenital diaphragmatic hernia (CDH) has an incidence of 1 in 3,000 births and a high mortality rate (33%-58%). Multifactorial inheritance, teratogenic agents, and genetic abnormalities have all been suggested as possible etiologic factors. To define candidate regions for CDH, we analyzed cytogenetic data collected on 200 CDH cases, of which 7% and 5% showed numerical and structural abnormalities, respectively. This study focused on the most frequent structural anomaly found: a deletion on chromosome 15q. We analyzed material from three of our patients and from four previously published patients with CDH and a 15q deletion. By using array-based comparative genomic hybridization and fluorescent in situ hybridization to determine the boundaries of the deletions and by including data from two individuals with terminal 15q deletions but without CDH, we were able to exclude a substantial portion of the telomeric region from the genetic etiology of this disorder. Moreover, one patient with CDH harbored a small interstitial deletion. Together, these findings allowed us to define a minimal deletion region of similar to 5 Mb at chromosome 15q26.1-26.2. The region contains four known genes, of which two-NR2F2 and CHD2-are particularly intriguing gene candidates for CDH.
Language
English
Source (journal)
The American journal of human genetics / American Society of Human Genetics [Bethesda, Md] - New York, N.Y., 1949, currens
Publication
New York, N.Y. : 2005
ISSN
0002-9297 [print]
1537-6605 [online]
Volume/pages
76:5(2005), p. 877-882
ISI
000228198300014
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 03.01.2013
Last edited 10.08.2017
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