title: Activation of an exonic splice-donor site in exon 30 ofCDK5RAP2in a patient with severe microcephaly and pigmentary abnormalities.
abstract: This report constitutes the first report of a cryptic exonic splice-donor site inCDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated withCDK5RAP2mutations may include skin pigmentary abnormalities.
authors.affiliation: National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
authors.forename: Alistair T
authors.initials: AT
authors.lastname: Pagnamenta
authors.affiliation: National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
authors.forename: Malcolm F
authors.initials: MF
authors.lastname: Howard
authors.affiliation: National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
authors.forename: Samantha J L
authors.initials: SJ
authors.lastname: Knight
authors.affiliation: Institute of Molecular Pathology Vienna Austria.
authors.forename: David A
authors.initials: DA
authors.lastname: Keays
authors.affiliation: Department of Neuroradiology Oxford University Hospitals NHS Foundation Trust Oxford UK.
authors.forename: Gerardine
authors.initials: G
authors.lastname: Quaghebeur
authors.affiliation: National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
authors.forename: Jenny C
authors.initials: JC
authors.lastname: Taylor
authors.affiliation: Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
keywords: CDK5RAP2; exome; exonic splice‐donor; microcephaly; pigmentation abnormalities