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

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.

Detalles Bibliográficos
Autores principales: Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054469/
https://www.ncbi.nlm.nih.gov/pubmed/27761245
http://dx.doi.org/10.1002/ccr3.663
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author Pagnamenta, Alistair T.
Howard, Malcolm F.
Knight, Samantha J. L.
Keays, David A.
Quaghebeur, Gerardine
Taylor, Jenny C.
Kini, Usha
author_facet Pagnamenta, Alistair T.
Howard, Malcolm F.
Knight, Samantha J. L.
Keays, David A.
Quaghebeur, Gerardine
Taylor, Jenny C.
Kini, Usha
author_sort Pagnamenta, Alistair T.
collection PubMed
description 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.
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spelling pubmed-50544692016-10-19 Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities Pagnamenta, Alistair T. Howard, Malcolm F. Knight, Samantha J. L. Keays, David A. Quaghebeur, Gerardine Taylor, Jenny C. Kini, Usha Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-08-23 /pmc/articles/PMC5054469/ /pubmed/27761245 http://dx.doi.org/10.1002/ccr3.663 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Pagnamenta, Alistair T.
Howard, Malcolm F.
Knight, Samantha J. L.
Keays, David A.
Quaghebeur, Gerardine
Taylor, Jenny C.
Kini, Usha
Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
title Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
title_full Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
title_fullStr Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
title_full_unstemmed Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
title_short Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
title_sort activation of an exonic splice‐donor site in exon 30 of cdk5rap2 in a patient with severe microcephaly and pigmentary abnormalities
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054469/
https://www.ncbi.nlm.nih.gov/pubmed/27761245
http://dx.doi.org/10.1002/ccr3.663
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