DIP2B CGG repeat expansion in siblings with neurodevelopmental disability and progressive movement disorder
Theberge, E. T.; Durbano, K.; Demailly, D.; Huby, S.; Mohajeri, A.; Care4Rare Canada Consortium, ; van Karnebeek, C.; Horvath, G. A.; Usdin, K.; Lehman, A.; Cif, L.; Richmond, P. A.
Show abstract
BackgroundTrinucleotide repeat expansions are an emerging class of genetic variants associated with several movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families. ObjectivesTo identify the genetic cause of a severe progressive movement disorder phenotype in two affected brothers. MethodsA family of two affected brothers and unaffected parents had extensive phenotyping and natural history followed since birth. Whole-genome and long-read sequencing methods were used to characterize genetic variants and methylation status. Results: We describe a CGG repeat expansion in the 5-untranslated region of DIP2B in two affected male siblings presenting with a novel DIP2B phenotype including neurodevelopmental disability, dysmorphic traits, and a severe progressive movement disorder (prominent chorea, dystonia, and ataxia). ConclusionsThis is the first report of a severe progressive movement disorder phenotype attributed to a CGG repeat expansion in the DIP2B 5-UTR.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
Similar papers in this journal
- De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability 93%
- Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients 92%
- Cerebral Visual Impairment: genetic diagnoses and phenotypic associations 92%
"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.