ArticleNeurosciences (Riyadh, Saudi Arabia)2018
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.
Article in Neurosciences (Riyadh, Saudi Arabia), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Functional analysis of a novel intronic variant ofHeliyon · 2024Article
- Prenatal Identification of a Novel Mutation in theChildren (Basel, Switzerland) · 2022Article
- The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.Cells · 2022Article
- Review
- Genome-Wide Identification of Cis-acting Expression QTLs in Large Yellow Croaker.Marine biotechnology (New York, N.Y.) · 2021Article
- The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.Cell death & disease · 2021Article
- Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.Nature communications · 2020Article
- Primary Microcephaly with Novel Variant ofJournal of pediatric genetics · 2020Article
- Whole Exome Sequencing Identifies Three Novel Mutations in theFrontiers in pediatrics · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify genetic variation involved in primary microcephaly.
methodsIn present study we identified 4 generation Saudi family showing primary microcephaly. We performed whole exome sequencing along with Sanger sequencing to find the genetic defect in this family. This study was conducted in King Abdulaziz University started from 2016 and the results presented in this manuscript are from one of the family.
resultsTwo novel missense variants (c.982G>A and c.1273T>A) were identified in heterozygous state in exon 8 of MCPH1 gene. The detected missense variants cause a tyrosine to asparagine substitution of residue 425 and a valine to isoleucine substitution at residue 310. MCPH1 gene encodes a DNA damage response protein. The encoded protein play a role in G2/M DNA damage checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. The respective mutation was ruled out in 100 control samples.
conclusionWe found novel compound heterozygous mutation in Saudi family that will help to build database for genetic mutations in population and pave way to devise strategies to tackle such disorders in future.
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