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.

中文翻译：

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Al-Raqad综合征中的白质脑病：扩大DCPS中双等位基因新型错义变体引起的临床和神经影像学特征。

Al-Raqad综合征（ARS）是一种罕见的常染色体隐性先天性疾病，主要与发育迟缓和智力残疾有关。该综合征是由编码清除剂mRNA脱壳酶的DCPS突变引起的，该突变在3-prime-end mRNA衰减途径中起作用。全血统测序是在一个近亲家庭的后代中进行的，该后代表现出发育迟缓，智力障碍，生长迟缓，轻度颅面畸形，脑和小脑萎缩以及白质弥漫性髓鞘变性。一种新颖的双等位基因错义变体，c.918G> C p。鉴定出DCPS基因中的Glu306Asp（Glu306Asp），随后通过Sanger测序和分离分析确认。到目前为止，很少有ARS病例的描述，