We unlocked the Saudi Genome
18 March 2025
Published online 30 May 2015
Rare genetic mutations, with possible severe effects including intellectual disability and death, identified.
© Nature Genetics / Alicia Guemez-Gamboa
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.
doi:10.1038/nmiddleeast.2015.91
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