Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Prenatal Diagnosis and Genetic Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Am J Med Genet A. 2020 Oct;182(10):2391-2398. doi: 10.1002/ajmg.a.61776. Epub 2020 Aug 7.
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.
阿尔-拉卡德综合征（ARS）是一种罕见的常染色体隐性先天性疾病，主要与发育迟缓及智力障碍有关。该综合征由 DCPS 基因突变引起，DCPS 编码 mRNA 脱帽酶的清除物，该酶在 3′-末端 mRNA 降解途径中发挥作用。对表现为发育迟缓、智力障碍、生长迟缓、轻度颅面异常、大脑和小脑萎缩以及白质弥漫性脱髓鞘模式的同一家族的后代进行了外显子组测序。在 DCPS 基因中发现了一种新的双等位基因错义变异，c.918G>C p.（Glu306Asp），随后通过 Sanger 测序和分离分析进行了确认。到目前为止，已经描述了少数 ARS 病例，本研究代表了一名 7 岁男孩，除了眼部和牙齿表现外，还表现为中枢和外周神经系统髓鞘发育不良，因此扩大了这种超罕见综合征的神经影像学和临床发现。
