Expansion of 5' UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathy
Yang, X.-Z.; zhang, D.-D.; Li, P.-D.; Niu, J.-W.; Xu, D.; Guo, X.-Y.; Wang, Z.; Zhao, Y.-H.; Ren, H.-T.; Ling, C.; Wang, Y.; Shen, J.-X.; Zhu, Y.-C.; Wang, D.-P.; Cui, L.-Y.; Chen, L.; Dai, Y.
Show abstract
Oculopharyngodistal myopathy is an 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, G1PC1and 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 22 patients diagnosed with typical OPDM and identified CGG repeat expansions in RILPL1 gene in all patients we tested while not in unaffected family members. Methylation analysis indicated that methylation levels of the RILPL1 gene were unaltered in OPDM patients, which was in consistent with previous reports. Our findings first provided evidences that RILPL1 were associated OPDM which we suggested as OPDM type 4.
Matching journals
The top 11 journals account for 50% of the predicted probability mass.
Similar papers in this journal
Similar papers in this journal
Similar papers in this journal
- An integrated Asian human SNV and indel benchmark combining multiple sequencing methods 94%
- Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population 94%
- Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data 94%
Similar papers in this journal
- Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum 95%
- Mitochondrial dysfunction underlying sporadic inclusion body myositis is ameliorated by the mitochondrial homing drug MA-5 94%
- Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2) 94%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.