Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Publication/Presentation Date
10-1-1999
Abstract
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall syndrome have been detected in the COL11A1 gene. We characterize here the genomic structure of the COL11A1 gene. Screening of patients with Stickler, Stickler-like, or Marshall syndrome pointed to 23 novel mutations. Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes.
Volume
65
Issue
4
First Page
974
Last Page
983
ISSN
0002-9297
Published In/Presented At
Annunen, S., Körkkö, J., Czarny, M., Warman, M. L., Brunner, H. G., Kääriäinen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., Davenport, S. L., Friedrich, C. A., Kaitila, I., Krawczynski, M. R., Latos-Bielenska, A., Mukai, S., Olsen, B. R., Shinno, N., … Ala-Kokko, L. (1999). Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. American journal of human genetics, 65(4), 974–983. https://doi.org/10.1086/302585
Disciplines
Medicine and Health Sciences
PubMedID
10486316
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article