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Published on: August 15, 2019
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
Norah Alsaleh1, Amal Alhashem1, Brahim Tabarki1
1Division of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Objectives:
Our objective was to identify the genetic cause in a family with a remarkable history of neurodevelopmental disease and growth retardation.
Methods:
A neurologic evaluation was performed, and DNA samples were obtained from the affected siblings and parents to perform whole-exome sequencing (WES).
Results:
Both siblings presented with dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, and congenital heart disease. WES revealed a homozygous nonsense variant in the FRA10AC1 gene in both siblings.
Discussion:
A recent study has reported the first association of biallelic variants in the spliceosomal C complex gene, FRA10AC1, with syndromic neurodevelopmental disease and growth retardation in 5 patients from 3 consanguineous families complex. In this study, we provide the first confirmation of the reported FRA10AC1-related neurologic syndrome in an additional family.
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