title: Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
abstract: AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described. Here we present the full clinical description of two affected men with intragenic AUTS2 variants (one two-base pair deletion in exon 7 and one deletion of exon 6). Both variants are de novo and are predicted to cause a frameshift of the full-length transcript but are unlikely to affect the shorter 3' transcript starting in exon 9. The similarities between the phenotypes of both men are striking and further support that AUTS2 syndrome is a single gene disorder.
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Gea
authors.initials: G
authors.lastname: Beunders
authors.affiliation: Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Sonja A
authors.initials: SA
authors.lastname: de Munnik
authors.affiliation: Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Van der Aa
authors.affiliation: Department of Neurology-Paediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Berten
authors.initials: B
authors.lastname: Ceulemans
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Els
authors.initials: E
authors.lastname: Voorhoeve
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Groffen
authors.affiliation: Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Willy M
authors.initials: WM
authors.lastname: Nillesen
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Meijers-Heijboer
authors.affiliation: Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
authors.forename: R
authors.identifier: 0000000320240485
authors.initials: R
authors.lastname: Frank Kooy
authors.affiliation: Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
mesh_terms: D003598:Cytoskeletal Proteins; D005091:Exons; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors; D055815:Young Adult
chemical_list: C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D014157:Transcription Factors