23 September 2020
Researchers find “deadly” gene mutations in Libyans, Egyptians
Published online 30 May 2015
Rare genetic mutations, with possible severe effects including intellectual disability and death, identified.
An international team of neurologists and geneticists has identified mutations that cause a rare but lethal neurodevelopmental disorder called microcephaly1 — marked by an abnormally small head and severe intellectual disability.
The mutations were found in two large consanguineous families, one Egyptian and the other Libyan. Affected members die within the first few years of life.
Joseph Gleeson of the University of California San Diego and colleagues performed exome sequencing on members of both families and identified two rare mutations within the MFSD2A gene.
This gene encodes a membrane-spanning protein that transports docosahexanoic acid (DHA) and other fatty acids into the brain. These molecules are synthesized by the liver, but are essential for proper brain development.
Both of the newly identified mutations inactivate the gene, and individuals carrying two defective copies of the gene develop the syndrome. The study thus provides the first direct evidence of a disease that is caused by a single defective gene and is associated with DHA transport.
- Guemez-Gamboa, A. et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat. Genet. http://dx.doi.org/10.1038/ng.3311 (2015).