H01878 | |
H number | H01878 |
Name | Al-Raqad syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | DCPS [HSA:28960] [KO:K12584] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 OMIM: 616459 |
Reference | PMID:25712129 AUTHORS Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Seraphin B, Reversade B TITLE Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. JOURNAL Hum Mol Genet 24:3163-71 (2015) DOI:10.1093/hmg/ddv067 PMID:25701870 AUTHORS Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA TITLE Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. JOURNAL Hum Mol Genet 24:3172-80 (2015) DOI:10.1093/hmg/ddv069 |