Article

A Novel Methodology to Recalibrate Pathogenic Range of SCA36 Repeat Expansions for PGT-M

2024-08-14

Abstract excerpt

<h4>Background</h4> Spinocerebellar ataxia-36 (SCA36) is an inherited neurodegenerative disorder caused by the heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene on chromosome 20p13. Unaffected individuals typically carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500. However, based on a single study, this pathogenic range was conservatively established, limitin...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 80451446-864c-5cc1-8907-7f4dbb46e1ab
DOI: 10.1101/2024.08.11.24311662

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Methodology to Recalibrate Pathogenic Range of SCA36 Repeat Expansions for PGT-MDOI 10.1101/2024.08.11.24311662Read

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.Semantic proximity Read

Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6Semantic proximity Read

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing dataSemantic proximity Read

Computational and experimental hunt for expansion prone tandem CNG repeats in human genomesSemantic proximity Read

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37.Semantic proximity Read

Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.Semantic proximity Read

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.Semantic proximity Read

Spinocerebellar ataxia type 36 in the Han ChineseSemantic proximity Read

SCA10 and ATTCT repeat expansion: clinical features and molecular aspects.Semantic proximity Read

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.Semantic proximity Read

Another Common Genetic Ataxia in South Korea: Spinocerebellar ataxia 36Semantic proximity Read

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.Semantic proximity Read