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

Alistair T Pagnamenta; Malcolm F Howard; Samantha J L Knight; David A Keays; Gerardine Quaghebeur; Jenny C Taylor; Usha Kini

doi:10.1002/ccr3.663

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

Clin Case Rep. 2016 Aug 23;4(10):952-956. doi: 10.1002/ccr3.663. eCollection 2016 Oct.

Authors

Alistair T Pagnamenta¹, Malcolm F Howard¹, Samantha J L Knight¹, David A Keays², Gerardine Quaghebeur³, Jenny C Taylor¹, Usha Kini⁴

Affiliations

¹ National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
² Institute of Molecular Pathology Vienna Austria.
³ Department of Neuroradiology Oxford University Hospitals NHS Foundation Trust Oxford UK.
⁴ Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.

Abstract

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.

Keywords: CDK5RAP2; exome; exonic splice‐donor; microcephaly; pigmentation abnormalities.

Publication types

Case Reports

Grants and funding

WT_/Wellcome Trust/United Kingdom