| A Case of FGFR2 Exon Ⅲc Mutation in Crouzon Syndrome |
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Seon Chan Bae, Eun Ha Lee, Moon Sung Park, Si Houn Hah, Chang Ho Hong |
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Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea |
| Crouzon 증후군에서의 FGFR2 Exon Ⅲc 돌연변이 1례 |
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배선찬, 이은하, 박문성, 한시훈, 홍창호 |
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아주대학교 의과대학 소아과학교실 |
Correspondence:
Si Houn Hah, Email: 1
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| Abstract |
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Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2(FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she was found to have Cys342Ser mutation in FGFR2 exon Ⅲc which has been previously observed in Jackson-Weiss syndrome. This finding supports the variable expression of FGFR2 in human and allelic heterogeneity in these apparently clinically distinct craniosynostotic conditions. |
| Key Words:
Crouzon syndrome, Fibroblast growth factor receptor 2 gene(FGFR2), Jackson-Weiss syndrome, Cys342Ser mutation |
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