STRs database » NUTM2B-AS1 locus

Overview of repeats

A disease named oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1) has been described by Ishiura and colleagues in 2019 which was characterised in one family. Expansion of CCG repeats was observed in the NUTM2B-AS1 gene that is transcribed bidirectionally (in CGG direction) in the noncoding RNA the LOC642361 gene. In one out of four patients, the expanded allele was determinedd to be 2.1 kb which corresponds to 700 trinucleotide repeats. In controls the repeat range was between 3 to 16 repeats (Ishiura et al. (2019)).

Subsequent studies reported an OPDM presentation at this locus. Shi et al. (2024) identified 12 individuals from three unrelated families with expansions of 161-669 CGG repeats, generally presenting with ocular, bulbar and limb weakness; only one patient showed the reported cerebellar white-matter MRI abnormality. Gu et al. (2024) independently associated expansions at the same locus with an oculopharyngodistal myopathy phenotype.

→ View STRipy's population-wide repeat data for NUTM2B-AS1 locus