Universität zu Köln

Klamt, Johanna, Hofmann, Andrea, Boehmer, Anne C., Hoebel, Ann-Kathrin, Goelz, Lina, Becker, Jessica, Zink, Alexander M., Draaken, Markus, Hemprich, Alexander, Scheer, Martin, Schmidt, Guel, Martini, Markus ORCID: 0000-0001-5608-6980, Knapp, Michael, Mangold, Elisabeth, Degenhardt, Franziska and Ludwig, Kerstin U. (2016). Further Evidence for Deletions in 7p14.1 Contributing to Nonsyndromic Cleft Lip with or without Cleft Palate. Birth Defects Res. Part A-Clin. Mol. Teratol., 106 (9). S. 767 - 773. HOBOKEN: WILEY-BLACKWELL. ISSN 1542-0760

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Abstract

BACKGROUND: Nonsyndromic cleft with or without cleft palate (nsCL/P) is a common birth defect. Although genome-wide association studies (GWAS) have identified numerous risk variants, a considerable fraction of the genetic heritability remains unknown. The aim of the present study was to replicate a previous finding that de novo deletions in a 62 kb region of chromosome 7p14 are a risk factor for nsCL/P, using an independent cohort. METHODS: Data from a published case-control GWAS cohort of 399 patients and 1318 controls were used. Copy number variant (CNV) detection in the 62 kb candidate region of 7p14 was performed using QuantiSNP. Putative CNVs in probands were verified and validated by quantitative polymerase chain reaction. Segregation analyses were performed in family members for whom DNA was available. RESULTS: Within the 62 kb candidate region, a deletion of 7.4 kb showed association with nsCL/P (13/387 cases, 20/1300 controls, p(lowest) = 0.024, odds ratio = 2.22). In all families with a sporadic case (n = 3), the deletion occurred de novo. In multiplex families, both incomplete segregation and incomplete penetrance were observed. CONCLUSION: The present data support the hypothesis that deletions at 7p14 are a common risk factor for nsCL/P. Genome-wide CNV analyses in nsCL/P cohorts are warranted to explore the functional relevance of these deletions and their contribution to nsCL/P, and to determine exact breakpoints. (C) 2016 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Klamt, Johanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Hofmann, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Boehmer, Anne C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoebel, Ann-Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Goelz, Lina UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Jessica UNSPECIFIED UNSPECIFIED UNSPECIFIED Zink, Alexander M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Draaken, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Hemprich, Alexander UNSPECIFIED UNSPECIFIED UNSPECIFIED Scheer, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmidt, Guel UNSPECIFIED UNSPECIFIED UNSPECIFIED Martini, Markus UNSPECIFIED orcid.org/0000-0001-5608-6980 UNSPECIFIED Knapp, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Mangold, Elisabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Degenhardt, Franziska UNSPECIFIED UNSPECIFIED UNSPECIFIED Ludwig, Kerstin U. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-263490
DOI:	10.1002/bdra.23539
Journal or Publication Title:	Birth Defects Res. Part A-Clin. Mol. Teratol.
Volume:	106
Number:	9
Page Range:	S. 767 - 773
Date:	2016
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1542-0760
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENOME-WIDE ASSOCIATION; COPY NUMBER VARIANTS; GENE-EXPRESSION; SUSCEPTIBILITY LOCUS; RISK; DISEASE; MAP; MECHANISMS; IDENTIFY; REGIONS Multiple languages Developmental Biology; Toxicology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26349