Protein-truncating variants in the 3' region of a transcript, evading mRNA degradation and giving rise to aberrant truncated proteins, are an underrecognized cause in Mendelian diseases. Here, we report two individuals with heterozygous de novo nonsense variants in the penultimate and last exon of NUSAP1, both presenti...
Maureen Jacob, Susann Badmann, S. Bigoni et al.· Clinical Genetics· 0 citations
Two recurrent canonical splice-site variants identified in patients with HCM from the Emilia-Romagna region of Northern Italy represent novel founder alleles associated with HCM in Northern Italy, and identification improves molecular diagnosis, family screening, and supports the development of variant-targeted therape...
C. Cristalli, M. Schiavo, M. R. S. Foti et al.· Genes· 0 citations
This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.
Sally Nijim, Mimi Kim, Melissa Denish et al.· Genetics in Medicine· 1 citation
The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.
Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al.· Journal of Neurology· 0 citations
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