| Accession |
PRJCA010379 |
| Title |
CGG Repeat Expansion in 5' UTR of RILPL1 Is Associated with A New Subtype of Oculopharyngodistal Myopathy |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
Exome
|
| Organisms |
Homo sapiens
|
| Description |
Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleotide repeat expansions in non-coding regions of LRP12, G1PC1 and NOTCH2NLC were recently reported to be the etiologies for OPDM. However, a significant portion of OPDM patients still have unknown genetic causes. In this study, we performed long-read whole-genome sequencing in a large five-generation family of 156 individuals, including 21 patients diagnosed with typical OPDM. |
| Sample scope |
Multiisolate |
| Release date |
2022-07-04 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 37864208
|
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
|
BMC Medical Genomics
|
10.1186/s12920-023-01586-9
|
2023
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Ministry of Science and Technology of the People's Republic of China (MOST)
|
National Key Technologies R&D Program
|
2016YFC0901502
|
|
| National Natural Science Foundation of China (NSFC)
|
Young Scientists Fund
|
31900481
|
|
|
|
| Submitter |
Yi
Dai (pumchdy@pumch.cn)
|
| Organization |
Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College |
| Submission date |
2022-07-04 |
