Al-Raqad syndrome

Definition:

Al-Raqad syndrome (ARS) is a novel clinical entity, and is an autosomal recessive disorder with anomalies in multiple organs. Its most salient phenotypes comprise severe growth delay, neurological defects, cognitive impairment, skeletal and cardiac anomalies. Its genetic etiology can be attributed to homozygous loss-of-function alleles in the DCPS gene. The DCPS protein is the scavenger mRNA decapping enzyme which functions in the last step of the 3' end mRNA decay pathway.

References:

[1]. Calista K L Ng, et al. Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. Hum Mol Genet. 2015 Jun 1;24(11):3163-71. [Content Brief]

[2]. Iltaf Ahmed, et al. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015 Jun 1;24(11):3172-80. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.