Publication
Title
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
Author
Abstract
Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555564]. The discovery of this apparently common mutation has resulted in the definition of a recognizable syndrome, through analysis of subtle clinical findings in families who were previously thought to have a variety of other craniosynostosis syndromes. Previous diagnoses in some of these families have included Jackson-Weiss, Saethre-Chotzen, and Pfeiffer syndromes, as well as Adelaide-type craniosynostosis and brachydactyly-craniosynostosis syndrome [Adès et al. (1994): Am J Med Genet 51:121130; von Gernet et al. (1996): Am J Med Genet 63:177184; Reardon et al. (1997): J Med Genet 34:632636; Bellus et al. (1996): Nat Genet 14:174176; Hollaway et al. (1995): Hum Mol Genet 4:681683; Glass et al. (1994): Clin Dysmorphol 3:215223]. There appears to be a need to further delineate the phenotype associated with this common mutation in FGFR3. We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis.
Language
English
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Publication
New York, N.Y. : 1998
ISSN
0148-7299
Volume/pages
77:4(1998), p. 322-329
ISI
000073422100014
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 06.06.2012
Last edited 28.07.2017