title: SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
abstract: Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes. © 2016 Wiley Periodicals, Inc.
authors.affiliation: MedGen Medical Centre, Warsaw, Poland.|Mastermed Medical Centre, Białystok, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.affiliation: Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Brzezinska
authors.affiliation: Department of Social and Religion Psychology, Institute of Psychology, The John Paul II Catholic University of Lublin, Lublin, Poland.
authors.forename: Justyna
authors.initials: J
authors.lastname: Kot
authors.affiliation: Department of Medical Genetics, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Rydzanicz
authors.affiliation: Department of Medical Genetics, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Walczak
authors.affiliation: Institute of Physilogy and Pathology of Hearing, Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Stawiński
authors.affiliation: Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Bożena
authors.initials: B
authors.lastname: Werner
authors.affiliation: Department of Medical Genetics, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
mesh_terms: D000328:Adult; D000483:Alleles; D002675:Child, Preschool; D059472:Exome; D019066:Facies; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D035781:Siblings; D013577:Syndrome
chemical_list: D008780:Methyltransferases; C000588437:SETD5 protein, human
keywords: 3p deletions; SETD5; exome sequencing; intellectual disability