Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome |
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Authors: | Daniela Steinberger John B Mulliken Ulrich Müller |
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Institution: | (1) Institut für Humangenetik, Justus-Liebig-Universität Gieen, Schlangenzahl 14, D-35392 Gieen, Germany;(2) Children's Hospital, Division of Plastic Surgery, Harvard Medical School, 300 Longwood Ave, 02115 Boston, MA, USA |
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Abstract: | Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in the three sporadic cases, replaced a cysteine by another amino acid. While three of the mutations have been described before, the fourth mutation, a CG transversion at codon 342 in one of the sporadic cases, has not been recognized previously. Compilation of all exon B mutations in Crouzon syndrome described to date revealed that 6 of the 8 sporadic and 2 of the 9 familial cases have mutations in codon 342. These mutations caused the substitution of cysteine for another amino acid. Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome. |
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