| 项目编号 |
PRJCA024672 |
| 项目标题 |
Whole exome sequencing of a patient with DPH1 mutations |
| 涉及领域 |
Medical |
| 数据类型 |
Exome
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
A four-year old girl with global developmental delay and intellectual disability ,Other clinical features of the patient included sparse hair and craniofacial disorders such as scaphocephaly, prominent forehead, and micrognathia. Whole-exome sequencing was performed for the patient.The patient (proband) carried two mutated alleles of the DPH1 gene: a c.136C>T (p.Q46X) nonsense allele, also present in the mother, and a c.724G>C (p.E242Q) missense allele, also present in the father. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2024-03-31 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 38671004
|
Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects
|
Nature Communications
|
10.1038/s41467-024-47670-1
|
2024
|
|
|
| 实验材料提供者 |
The Patient |
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| Chongqing Medical University
|
|
W0110
|
Future Medical Youth Innovation Team Development Support Project of Chongqing Medical University
|
|
|
| 提交者 |
Yu
Shi (shiyu@hospital.cqmu.edu.cn)
|
| 提交单位 |
Children's Hospital of Chongqing Medical University |
| 提交日期 |
2024-03-26 |
