title: X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
abstract: X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS. Mutation analysis of the MID1 gene in the patient and his mother demonstrated that the patient had a novel insertion mutation (c.1798_1799-insC), and his mother was a heterozygous carrier of the mutation. After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hyun-Jung
authors.initials: HJ
authors.lastname: Cho
authors.forename: Mee-yong
authors.initials: MY
authors.lastname: Shin
authors.forename: Kang-Mo
authors.initials: KM
authors.lastname: Ahn
authors.forename: Sang Il
authors.initials: SI
authors.lastname: Lee
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008868:Microtubule Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D011296:Prenatal Diagnosis; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D008868:Microtubule Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases