Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Export

@article{citeulike:3463637, 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.}, author = {Annunen, S. and K\"{o}rkk\"{o}, J. and Czarny, M. and Warman, M. L. and Brunner, H. G. and K\"{a}\"{a}ri\"{a}inen, H. and Mulliken, J. B. and Tranebjaerg, L. and Brooks, D. G. and Cox, G. F. and Cruysberg, J. R. and Curtis, M. A. and Davenport, S. L. and Friedrich, C. A. and Kaitila, I. and Krawczynski, M. R. and Latos-Bielenska, A. and Mukai, S. and Olsen, B. R. and Shinno, N. and Somer, M. and Vikkula, M. and Zlotogora, J. and Prockop, D. J. and Ala-Kokko, L.}, citeulike-article-id = {3463637}, citeulike-linkout-0 = {http://dx.doi.org/10.1086/302585}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/10486316}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=10486316}, doi = {10.1086/302585}, issn = {0002-9297}, journal = {American journal of human genetics}, keywords = {phenotype}, month = {October}, number = {4}, pages = {974--983}, posted-at = {2008-10-29 21:03:17}, priority = {2}, title = {Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.}, url = {http://dx.doi.org/10.1086/302585}, volume = {65}, year = {1999} }

TY - JOUR ID - citeulike:3463637 L3 - citeulike-article-id:3463637 N2 - 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. IS - 4 JF - American journal of human genetics SN - 0002-9297 EP - 983 TI - Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. VL - 65 SP - 974 KW - phenotype AU - Annunen, S AU - Körkkö, J AU - Czarny, M AU - Warman, ML AU - Brunner, HG AU - Kääriäinen, H AU - Mulliken, JB AU - Tranebjaerg, L AU - Brooks, DG AU - Cox, GF AU - Cruysberg, JR AU - Curtis, MA AU - Davenport, SL AU - Friedrich, CA AU - Kaitila, I AU - Krawczynski, MR AU - Latos-Bielenska, A AU - Mukai, S AU - Olsen, BR AU - Shinno, N AU - Somer, M AU - Vikkula, M AU - Zlotogora, J AU - Prockop, DJ AU - Ala-Kokko, L PY - 1999/10// UR - http://dx.doi.org/10.1086/302585 ER -