Leukoencephalopathy in Al-Raqad Syndrome: Expanding the Clinical and Neuroimaging Features Caused by a Biallelic Novel Missense Variant in Dcps Publisher Pubmed



Masoudi M¹ ; Bereshneh AH^{2, 3} ; Rasoulinezhad M¹ ; Ashrafi MR¹ ; Garshasbi M⁴ ; Tavasoli AR¹
Source: American Journal of Medical Genetics# Part A Published:2020

Abstract

Al-Raqad syndrome (ARS) is a rare autosomal recessive congenital disorder, associated mainly with developmental delay, and intellectual disability. This syndrome is caused by mutations in DCPS, encoding scavenger mRNA decapping enzyme, which plays a role in the 3-prime-end mRNA decay pathway. Whole-exome sequencing was performed on an offspring of a consanguineous family presenting with developmental delay, intellectual disability, growth retardation, mild craniofacial abnormalities, cerebral and cerebellar atrophy, and white matter diffuse hypomyelination pattern. A novel biallelic missense variant, c.918G>C p. (Glu306Asp), in the DCPS gene was identified which was confirmed by sanger sequencing and segregation analysis subsequently. Few cases of ARS have been described up to now, and this study represents a 7-years-old boy presenting with central and peripheral nervous system impaired myelination in addition to ocular and dental manifestation, therefore outstretch both neuroimaging and clinical findings of this ultra-rare syndrome. © 2020 Wiley Periodicals LLC