09 July 2020
New genes identified for neurological disorders
Published online 26 January 2015
An international research team has discovered a host of mutated genes that can trigger neurological disorders such as intellectual disability, microcephaly (small brain), autism and epilepsy — identifying links that can potentially be used for genetic diagnosis.
The researchers identified 69 genes by mapping the genomes of disease-afflicted individuals including infants from 143 consanguineous Saudi Arabian and Egyptian families. They mapped each of the genes to a single gene locus across several similarly affected individuals from more than one nuclear family, suggesting them to be genuine disease genes rather than mere candidates1.
Of all the identified genes, 33 are novel disease genes not previously reported. Mutations in several of these genes caused different neurological diseases.
For example, mutations in ISCA2 cause the degeneration of white matter in brain; whereas those in INO80 can lead to microcephaly. GEMIN4 mutation delays development and causes cataract formation.
“With every novel disease gene, understanding the human genome becomes a bit easier. The identification of 33 novel genes marks a significant step in that direction,” commented lead researcher Fowzan S. Alkuraya from King Faisal Specialist Hospital and Research Center, Saudi Arabia.
- Alazami, A. M. et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Reports (2015) http://dx.doi.org/10.1016/j.celrep.2014.12.015