title: R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.
abstract: Opitz G/BBB syndrome is a genetically heterogeneous condition, with both autosomal dominant and X-linked forms. The MID1 gene is associated with X-linked Opitz G/BBB syndrome. Most mutations identified are unique, which makes it difficult to assess possible genotype/phenotype correlations. We report on a familial c.1102C>T (p.R368X) mutation in the MID1 gene, previously reported by Cox et al. (Hum Mol Genet 9:2553-2562, 2000), and document it as a recurrent mutation causing Opitz G/BBB syndrome. This mutation may result in various midline defects, including cleft lip/palate, laryngeal cleft, hypertelorism, Dandy-Walker malformation, ventricular septal defect and hypospadias in male patients, with intrafamilial variability. Seven other mutations (c.712G>T, c.829C>T, c.1108A>G, c.1444_1447dupAACA, c.1483C>T, c.1798dupC and entire gene deletions) have been previously reported as recurrent mutations. The presented family with the c.1102C>T mutation provides additional information about the clinical consequences of the nonsense mutation causing premature truncation of the protein at the level of the COS domain.
authors.affiliation: Departments of aHuman and Medical Genetics bRadiology, Nuclear Medicine and Physics of Medicine cClinic of ENT and Eye Diseases, Faculty of Medicine, Vilnius University dCentre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.
authors.forename: Egle
authors.initials: E
authors.lastname: Preiksaitiene
authors.forename: Natalija
authors.initials: N
authors.lastname: Krasovskaja
authors.forename: Algirdas
authors.initials: A
authors.lastname: Utkus
authors.forename: Jurate
authors.initials: J
authors.lastname: Kasnauskiene
authors.forename: Raimonda
authors.initials: R
authors.lastname: Meškienė
authors.forename: Iveta
authors.initials: I
authors.lastname: Paulauskiene
authors.forename: Nomeda R
authors.initials: NR
authors.lastname: Valevičienė
authors.forename: Vaidutis
authors.initials: V
authors.lastname: Kučinskas
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008868:Microtubule Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; 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