Oculopharyngeal Myopathy with Leukoencephalopathy (NUTM2B-AS1)
| Dred_ID | RD00045 |
| OMIM ID | 618637 |
| Disease name | Oculopharyngeal Myopathy with Leukoencephalopathy |
| Alternative names | OPML |
| Category | Genetic diseases |
| Phenotype | OPML is a new disease entity that has not been previously described. Among the patients, two had severe gastrointestinal dysmotility and respiratory failure in addition to ptosis and ocular, pharyngeal and limb muscle weakness. |
| Miscellaneouse | adult onset progressive disorder one japanese family has been reported |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | NUTM2B-AS1 |
| Alias symbols | OPML1 |
| Gene name | NUTM2B antisense RNA 1 |
| Gene map locus | 10q22.3; chr10:79,661,394-79,826,770(-) |
| Ensembl Gene ID | ENSG00000225484 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | NUTM2B-AS1 (NUTM2B Antisense RNA 1) is an RNA Gene, and is affiliated with the non-coding RNA class. |
| Repeat unit | CCG |
| Normal repeat copies | 3-16 |
| Pathogenic repeat copies | ≥40 |
| Gene | NUTM2B-AS1 |
| Repeat location | exon |
| Chromosome locus | chr10:79826381-79826404 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | It suggests that transcribed expanded CGG repeats are commonly involved in the development of OPML. |
| Pathway annotation | Reactome, KEGG |
| PMID | 31332380 |
| Authors | Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. |
| Title | Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease |
| Journal | Nature Genetics |
| Year | 2019 |