Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, James Fasham, Maysa Alawneh, Joseph Leslie, Mosab Maree, Adam Gunning, Deyala Z Zayed, Nikol Voutsina, Lucy McGavin, Reem Sawafta, Martina Owens, Wisam Baker, Peter Turnpenny, Fida' Al-Hijawi, Emma L Baple, Andrew H Crosby, Lettie E Rawlins
Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds remains a major diagnostic challenge. Here, we investigated the genetic cause of a complex neurodevelopmental phenotype in two Palestinian siblings. Whole exome sequencing identified a homozygous missense TECPR2 variant (Chr14(GRCh38):g.102425085G>A; NM_014844.5:c.745G>A, p.(Gly249Arg)) absent in gnomAD, segregating appropriately with the inheritance pattern in the family...
March 4, 2024: American Journal of Medical Genetics. Part A