title: First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.
abstract: Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder with variable clinical phenotypes, including brachycephaly, hypertelorism, and a bifid nasal tip. Moreover, longitudinal splittings of the nails and skeletal abnormalities may accompany this condition. CFNS is inherited in an X-linked dominant manner; however, affected heterozygous females exhibit additional and more severe manifestations compared with affected hemizygous males, paradoxically. Here, we report for the first time in Korea two girls with molecularly confirmed CFNS. They commonly showed the typical craniofacial manifestations of CFNS, whereas the severity and the type of associated anomalies differed between them, suggesting phenotypic diversity for this disease. One patient showed unilateral coronal synostosis, cleft palate, and septate uterus together with intellectual disability. The other patient exhibited bilateral coronal synostosis and normal developmental milestones, without anomalies in other organs. A Sanger sequencing analysis of these patients revealed one novel (IVS2+3G>T) and one previously reported mutation (p.Gly151Ser) in EFNB1 Both patients were de novo cases without a family history of CFNS.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hani
authors.initials: H
authors.lastname: Yoo
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea jmko@snu.ac.kr.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D036387:Ephrin-B1 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015203:Reproducibility of Results; D014057:Tomography, X-Ray Computed
chemical_list: C484288:EFNB1 protein, human; D036387:Ephrin-B1
keywords: Agenesis of the corpus callosum; Coronal synostosis; Craniofrontonasal syndrome; EFNB1; Hypertelorism