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Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq


Murray, J C; Nishimura, D Y; Buetow, K H; Ardinger, H H; Spence, M A; Sparkes, R S; Falk, R E; Falk, P M; Gardner, Jennifer M; Harkness, E M; Glinski, L P; Pauli, Richard M; Nakamura, Y; Schinzel, Albert (1990). Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. American Journal of Human Genetics, 46(3):486-491.

Abstract

Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogenesis. As a first step in identifying genes involved in human development, we used a candidate-gene-and-region approach to look for a linkage to VWS. Six families with 3 or more generations of affected individuals were studied. Evidence for linkage (theta = 0.02, lod score = 9.09) was found between the renin (REN) gene on 1q and VWS. Other linked loci included CR1, D1S58, and D1S53. The genes for laminin B2 (LAMB2), a basement-membrane protein, and for decay-accelerating factor (DAF) were studied as possible candidate genes on 1q. Recombinants between VWS and both LAMB2 and DAF excluded these genes from a causal role in the etiology of VWS for the families studied in this report. Multipoint linkage analysis indicated that the VWS locus was flanked by REN and D1S65 at a lod score of 10.83. This tight linkage with renin and other nearby loci provides a first step in identifying the molecular abnormality underlying this disturbance of human development.

Abstract

Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogenesis. As a first step in identifying genes involved in human development, we used a candidate-gene-and-region approach to look for a linkage to VWS. Six families with 3 or more generations of affected individuals were studied. Evidence for linkage (theta = 0.02, lod score = 9.09) was found between the renin (REN) gene on 1q and VWS. Other linked loci included CR1, D1S58, and D1S53. The genes for laminin B2 (LAMB2), a basement-membrane protein, and for decay-accelerating factor (DAF) were studied as possible candidate genes on 1q. Recombinants between VWS and both LAMB2 and DAF excluded these genes from a causal role in the etiology of VWS for the families studied in this report. Multipoint linkage analysis indicated that the VWS locus was flanked by REN and D1S65 at a lod score of 10.83. This tight linkage with renin and other nearby loci provides a first step in identifying the molecular abnormality underlying this disturbance of human development.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Van der Woude Syndrome
Language:English
Date:March 1990
Deposited On:20 Oct 2023 11:21
Last Modified:29 Apr 2024 01:40
Publisher:Elsevier
ISSN:0002-9297
OA Status:Closed
Related URLs:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683619/ (Library Catalogue)
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC1683619&blobtype=pdf (Library Catalogue)
PubMed ID:2309700
Other Identification Number:Corpus ID: 25119365 / PMCID: PMC1683619