title: A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.
abstract: The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by hypertelorism, swallowing difficulties, hypospadias, and additional midline malformations. Loss of function mutations in the MID1 gene at Xp22.3 are responsible for the X-linked form of OS. Various mutations are found all over the gene but without a clear genotype-phenotype correlation. We describe additional family studies of a previously reported boy with a relatively mild form of OS, caused by the unique p.Lys370Glu (c.1108A>G) mutation in MID1. The same mutation was found in his clinically affected brother but also in the healthy maternal uncle. To our knowledge, this is the first report of a MID1 missense mutation causing non-penetrance in a male.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Cluster in Biomedicine, Trieste, Italy.
authors.forename: Mariken
authors.initials: M
authors.lastname: Ruiter
authors.forename: Erik-Jan
authors.initials: EJ
authors.lastname: Kamsteeg
authors.forename: Germana
authors.initials: G
authors.lastname: Meroni
authors.forename: Bert B A
authors.initials: BBA
authors.lastname: de Vries
mesh_terms: D041321:Chromosomes, Human, X; D004947:Esophagus / Q000002:abnormalities / Q000473:pathology; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology; D007021:Hypospadias / Q000235:genetics / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008868:Microtubule Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; 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