Randomized trial identifies genetic variants linked to neurodevelopmental disorders in consanguineous families, suggesting the need for ongoing genetic research.
Key Points
The aim is to identify new genetic variants linked to neurodevelopmental disorders for routine diagnostics.
Whole exome sequencing was used for ten unrelated consanguineous families from Jordan.
Families had one or two affected members with neurodevelopmental disorders.
Ten genetic variants were identified, with one variant per family.
Nine variants were homozygous in consanguineous families; one heterozygous in a non-consanguineous family.
Two variants were identified for the first time, both splice variants.