| H01878 | |
| H番号 | H01878 |
| 名称 | Al-Raqad 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | DCPS [HSA:28960] [KO:K12584] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 OMIM: 616459 |
| 文献 | PMID:25712129 著者 Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Seraphin B, Reversade B タイトル Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. 雑誌 Hum Mol Genet 24:3163-71 (2015) DOI:10.1093/hmg/ddv067 PMID:25701870 著者 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 タイトル Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 雑誌 Hum Mol Genet 24:3172-80 (2015) DOI:10.1093/hmg/ddv069 |