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

J. C MURRAY; D. Y NISHIMURA; L. P GLINSKI; R. M PAULI; Y NAKAMURA; P. P GREEN; A SCHINZEL; K. H BUETOW; H. H ARDINGER; M. A SPENCE; R. S SPARKES; R. E FALK; P. M FALK; R. J. M GARDNER; E. M HARKNESS

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

Journal article

Peer reviewed

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

J. C MURRAY, D. Y NISHIMURA, L. P GLINSKI, R. M PAULI, Y NAKAMURA, P. P GREEN, A SCHINZEL, K. H BUETOW, H. H ARDINGER, M. A SPENCE, …

American journal of human genetics, Vol.46(3), pp.486-491

1990

PMCID: PMC1683619

PMID: 2309700

View Online

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.

Biological and medical sciences

Medical sciences

Facial bones, jaws, teeth, parodontium: diseases, semeiology

Otorhinolaryngology. Stomatology

Non tumoral diseases

Details

Title: Subtitle: Linkage of an autosomal dominant clefting syndrome (Van der Woude) to Loci on chromosome Iq
Creators: J. C MURRAY - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
D. Y NISHIMURA - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
L. P GLINSKI - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
R. M PAULI - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
Y NAKAMURA - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
P. P GREEN - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
A SCHINZEL - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
K. H BUETOW - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
H. H ARDINGER - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
M. A SPENCE - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
R. S SPARKES - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
R. E FALK - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
P. M FALK - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
R. J. M GARDNER - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
E. M HARKNESS - Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.46(3), pp.486-491
PMID: 2309700
PMCID: PMC1683619
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: University of Chicago Press; Chicago, IL
Language: English
Date published: 1990
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Ophthalmology and Visual Sciences
Record Identifier: 9984025589802771

Metrics

22 Record Views

95 Times Cited - Web of Science