ArticleBMC medical genetics2014
A novel single base pair duplication in WDR62 causes primary microcephaly.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Article
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- Dynamic centriolar localization of Polo and Centrobin in early mitosis primes centrosome asymmetry.PLoS biology · 2020Article
- A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.Journal of applied genetics · 2019Review
- Two Novel Mutations (c.883-4_890del and c.1684C>G) ofFrontiers in pediatrics · 2019Article
- Novel compound heterozygous mutations inPakistan journal of medical sciences · 2019Article
- A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.BMC medical genetics · 2018Article
- The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.Molecular neurobiology · 2018Review
- Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.Scientific reports · 2017Article
- A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.Annals of Saudi medicineArticle
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary 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.
conclusionBy 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.