The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.
The Muenke syndrome ( MS ) is characterized by unicoronal or bicoronal craniosynostosis , midfacial hypoplasia , ocular hypertelorism , and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 ( FGFR3 ) gene . The birth prevalence is approximately one in 10,000 live births , accounting for 8 - 10 % of patients with coronal synostosis . Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes , with autosomal dominant inheritance , there has been no report of MS , in an affected Korean family with typical cephalo - facial morphology that has been confirmed by molecular studies . Here , we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 ( IgII - IGIII linker domain ) of the FGFR3 gene . This patient had mild midfacial hypoplasia , hypertelorism , downslanting palpebral fissures , a beak shaped nose , plagio - brachycephaly , and mild neurodevelopmental delay . The same mutation was confirmed in the patient 's mother , two of the mother 's sisters and the maternal grandfather . The severity of the cephalo - facial anomalies was variable among these family members .
Which gene is associated with Muenke syndrome?
Which gene is associated with Muenke syndrome ?
Fibroblast Growth Factor Receptor 3 (FGFR3)
Fibroblast Growth Factor Receptor 3 (FGFR3)