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Clin Case Rep. 2016 Aug 23;4(10):952-956. eCollection 2016 Oct.

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

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National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
Institute of Molecular Pathology Vienna Austria.
Department of Neuroradiology Oxford University Hospitals NHS Foundation Trust Oxford UK.
Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.


This report constitutes the first report of a cryptic exonic splice-donor site in CDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK5RAP2 mutations may include skin pigmentary abnormalities.


CDK5RAP2; exome; exonic splice‐donor; microcephaly; pigmentation abnormalities

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