Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the
SAMD12
TTTCA repeat expansion
autosomal dominant cortical tremor
myoclonus and epilepsy (ADCME)
repeat-primed PCR
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2021
2021
Historique:
received:
14
07
2020
revised:
15
10
2020
accepted:
25
10
2020
entrez:
27
1
2021
pubmed:
28
1
2021
medline:
28
1
2021
Statut:
epublish
Résumé
Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy is a non-progressive disorder characterized by distal tremors. Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported globally with different genetic predispositions of autosomal dominant inheritance with a high degree of penetrance. In south India, Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported in a large cohort of 48 families, in which the genetic defect was not identified. This report pertains to the whole-genome analysis of four individuals followed by repeat-primed PCR for 102 patients from a familial cohort of 325 individuals. All the patients underwent extensive clinical evaluation including neuropsychological examinations. The whole-genome sequencing was done for two affected and two unaffected individuals, belonging to two different families. The whole-genome sequencing analysis revealed the repeat expansion of TTTTA and TTTCA in intron 4 of the
Identifiants
pubmed: 33501421
doi: 10.1093/braincomms/fcaa214
pii: fcaa214
pmc: PMC7811760
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcaa214Informations de copyright
© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.
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