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BMC Medical Genetics

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Open Access 01-12-2014 | Case report

A novel single base pair duplication in WDR62 causes primary microcephaly

Authors: Verena Rupp, Sobiah Rauf, Ishrat Naveed, Christian Windpassinger, Asif Mir

Published in: BMC Medical Genetics | Issue 1/2014

Abstract

Background

Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities.

Case presentation

In this study we report on three Pakistani males from a consanguineous family with 2, 4 and 25 years, diagnosed with autosomal recessive primary microcephaly. By genotyping, Sanger sequencing and using bioinformatical approaches the disease causing mutation was identified and evaluated.

Conclusion

By using a 250K SNP array, we were able to detect an 11Mb large autozygous region in the MCPH2 locus on chromosome 19q13.12. Sequencing of the associated gene, WDR62, revealed the frameshift causing single base pair duplication, c.2527dupG. This mutation is predicted to affect the structural features of WDR62 which in turn changes the conformation and function of the protein. Aspartic acid (D) at position 843 was found to be conserved among various ortholog species. The present findings will be helpful in genetic diagnosis of patients and future studies of WDR62.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/15/107/prepub

Title: A novel single base pair duplication in WDR62 causes primary microcephaly
Authors: Verena Rupp
Sobiah Rauf
Ishrat Naveed
Christian Windpassinger
Asif Mir
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2014
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-014-0107-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A novel single base pair duplication in WDR62 causes primary microcephaly

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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