TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

Yeetong, Patra; Pongpanich, Monnat; Srichomthong, Chalurmpon; Assawapitaksakul, Adjima; Shotelersuk, Varote; Tantirukdham, Nithiphut; Chunharas, Chaipat; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

doi:10.1093/brain/awz267

Cited by 84 publications

(78 citation statements)

References 25 publications

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“…Recent methodological advances in bioinformatics have made the simultaneous testing for all known REs through whole-genome sequencing (WGS) feasible. 2 In addition, multiple novel REs have recently been discovered in neurological disorders using WGS, including epilepsy [3][4][5][6] and ataxia. [7][8][9] Indeed, there is growing recognition of the importance of REs and the potential contribution to unsolved neurogenetic diseases.…”

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confidence: 99%

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

et al. 2020

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Background Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have made repeat expansion (RE) detection with whole‐genome sequencing (WGS) feasible. Objectives The objective of this study was to determine the genetic basis of ataxia in a multigenerational Australian pedigree with autosomal‐dominant inheritance. Methods and Results WGS was performed on 3 affected relatives. The sequence data were screened for known pathogenic REs using 2 RE detection tools: exSTRa and ExpansionHunter. This screen provided a clear and rapid diagnosis (<5 days from receiving the sequencing data) of spinocerebellar ataxia 36, a rare form of ataxia caused by an intronic GGCCTG RE in NOP56. Conclusions The diagnosis of rare ataxias caused by REs is highly feasible and cost‐effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost‐effective methodology for the molecular testing of individuals with a clinical diagnosis of ataxia. © 2020 International Parkinson and Movement Disorder Society

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confidence: 99%

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

et al. 2020

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“…Three more recent reports also confirmed TTTCA pentanucleotide expansions in BAFME 1 families of another ethic background (9)(10)(11). Subsequently, TTTCA repeat insertions in an intron of YEATS2 in BAFME 4 was confirmed in a Thailand pedigree (7). ATTTC repeat expansions in STARD7 and unstable TTTTA/TTTCA expansions in MARCH6 were also found in European families (5,6).…”

Section: Introductionmentioning

confidence: 69%

TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree

et al. 2020

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Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investigate whether these abnormal expansions are involved in our new pedigree from China, whole exome sequencing (WES) and repeat-primed polymerase chain reaction (RP-PCR) analysis were performed to detect potential mutation in pedigree members. Neither causal mutations cosegregated with the disease in the family nor any novel mutation was identified through WES, while an abnormal TTTCA expansion in SAMD12 was identified by RP-PCR and then proved to be cosegregated in the pedigree. All the 12 alive affected individuals (M/F = 4/8; average age = 46.7 years old, range from 27 to 66) showed typical characteristics of BAFME. In addition, maternal clinical anticipation was observed in six mother/child pairs. In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME.

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“…Five different loci have been disclosed including one on chromosome 8 (8q24) [23] in Japanese families. The exact genetic defect reported for the Italian, Indian, French and Japanese families is similar and affects the non-coding DNA [5,9,12,29]. For the Japanese families an expansion of an intronic ATTTT pentamer coupled with an insertion of a repeated ATTTC pentamer within the genes SAMD12, TNRC6A, RAPGEF2 has been identified [12].…”

Section: Discussionmentioning

confidence: 97%

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

et al. 2020

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Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, cerebellum and cerebral subcortical white matter. The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: SLC20A2, PDGFRB, PDGFB and XPR1. A variety of progressive neurological and psychiatric symptoms have been described, including cognitive impairment, movement disorders, bipolar disorder, chronic headaches and migraine, and epilepsy. Here we describe a family with a novel SLC20A2 mutation mainly presenting with neurological symptoms including cortical myoclonus and epilepsy. While epilepsy, although rare, has been reported in patients with IBGC associated with SLC20A2 mutations, cortical myoclonus seems to be a new manifestation.

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TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

Cited by 84 publications

References 25 publications

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

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