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Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS
Author(s) -
Masoudi Maryam,
Bereshneh Ali Hosseini,
Rasoulinezhad Maryam,
Ashrafi Mahmoud Reza,
Garshasbi Masoud,
Tavasoli Ali Reza
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61776
Subject(s) - missense mutation , exome sequencing , intellectual disability , microcephaly , sanger sequencing , leukoencephalopathy , white matter , neuroimaging , global developmental delay , leukodystrophy , atrophy , medicine , pathology , genetics , biology , neuroscience , mutation , gene , magnetic resonance imaging , disease , radiology , phenotype
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.