WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome

Clinical Genetics
J SuleimanA W El-Hattab

Abstract

The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of 2 large cohorts of affected individuals. In this report we present 6 individuals from 3 unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in 1 family and c.673C>T (p.R225*) in 2 families. These individuals shared a similar phenotype including profound development delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Neuroimaging showed ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter. The consistency in the phenotype strongly supports that WDR45B is associated with this disease.

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Citations

Aug 16, 2019·Disease Models & Mechanisms·Jonathan R VolpattiJames J Dowling
May 7, 2020·Frontiers in Cell and Developmental Biology·Daniela Bakula, Morten Scheibye-Knudsen
Oct 22, 2020·Nature Communications·Hirofumi YamaguchiShigeomi Shimizu
Nov 6, 2020·International Journal of Molecular Sciences·Isaac Tamargo-GómezGuillermo Mariño
Apr 13, 2021·Autophagy·Yingying CongMario Mauthe
Jun 24, 2021·The New England Journal of Medicine·Jack J CollierRobert W Taylor
Jul 25, 2021·Nature Reviews. Molecular Cell Biology·Yan G ZhaoHong Zhang
Aug 21, 2021·Current Opinion in Pharmacology·Akiko Sumitomo, Toshifumi Tomoda
Aug 31, 2021·The EMBO Journal·Daniel J KlionskyFederico Pietrocola
Nov 3, 2021·EMBO Molecular Medicine·Jack J CollierRobert W Taylor

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