Article

ATTCT and ATTCC repeat expansions in the <i>ATXN10</i> gene affect disease penetrance of spinocerebellar ataxia type 10

2022-05-16

Abstract excerpt

Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat expansion, when fully penetrant, has a size of 850 to 4500 repeats. It has been shown that the repeat composition can be a modifier of disease, e.g., seizures. Here, we describe a Hispanic kindred in which we identified both pure (ATTCT) n expansions and mixed (ATTCT...

Topics

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

Identifiers and source

Literature Corpus work: 4f346126-12bd-5671-bf12-f455d9027951
DOI: 10.1101/2022.05.12.22274972

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

ATTCT and ATTCC repeat expansions in the <i>ATXN10</i> gene affect disease penetrance of spinocerebellar ataxia type 10DOI 10.1101/2022.05.12.22274972Read

Expanded ATXN10 Alleles in Neurodegenerative Disorders: A Case Series and Review of the LiteratureSemantic proximity Read

Novel ATXN10 repeat motif patterns in Peruvian families modify disease age at onsetSemantic proximity Read

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.Semantic proximity Read

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cellsSemantic proximity Read

Long-read sequencing across the <i>C9orf72</i> ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read

Optical genome mapping enables accurate repeat expansion testingSemantic proximity Read

<i>FGF14</i>repeat length and mosaic interruptions: modifiers of SCA27B?Semantic proximity Read

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Semantic proximity Read

Dissecting the relationship between haplotypes around ATXN2 CAG repeats and the number of CAA interruptions by long-read sequencingSemantic proximity Read

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disordersSemantic proximity Read