title: Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
abstract: Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the cause was identified on the basis of de novo heterozygous mutations in the ASXL1 gene. We report on two novel cases carrying two previously undescribed mutations (c.2407_2411del5 [p.Q803TfsX17] and c.2893C>T [p.R965X]). These new data further support ASXL1 as cause of BOS and may contribute to a more precise definition of the phenotype caused by the disruption of this gene.
authors.affiliation: Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy. pamela.magini@unibo.it
authors.forename: Pamela
authors.initials: P
authors.lastname: Magini
authors.forename: Matteo
authors.initials: M
authors.lastname: Della Monica
authors.forename: Maria Luisa Giovannucci
authors.initials: ML
authors.lastname: Uzielli
authors.forename: Patrizia
authors.initials: P
authors.lastname: Mongelli
authors.forename: Gloria
authors.initials: G
authors.lastname: Scarselli
authors.forename: Eleonora
authors.initials: E
authors.lastname: Gambineri
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C473949:ASXL1 protein, human; D018389:Codon, Nonsense; D012097:Repressor Proteins