Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. Subsequently, long-read whole-genome sequencing showed the (TTTTA)446(TTTCA)149 in intron 4 of SAMD12 in an affected member. Repeat-primed PCR and long-range PCR revealed that the pentanucleotide repeat expansions segregated with the disease status. Our Thai family is the first non-Japanese and non-Chinese family with BAFME1. SNP array showed that the aberrant repeats had the same haplotype as those previously determined in Japanese and Chinese patients suggesting a common ancestry. The variant is estimated to arise ~12,000 years ago.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:29 |
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| Enthalten in: |
European journal of human genetics : EJHG - 29(2021), 2 vom: 24. Feb., Seite 343-348 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Yeetong, Patra [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 18.01.2022 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1038/s41431-020-00729-1 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM31544133X |
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| 245 | 1 | 0 | |a Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1 |
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| 520 | |a Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. Subsequently, long-read whole-genome sequencing showed the (TTTTA)446(TTTCA)149 in intron 4 of SAMD12 in an affected member. Repeat-primed PCR and long-range PCR revealed that the pentanucleotide repeat expansions segregated with the disease status. Our Thai family is the first non-Japanese and non-Chinese family with BAFME1. SNP array showed that the aberrant repeats had the same haplotype as those previously determined in Japanese and Chinese patients suggesting a common ancestry. The variant is estimated to arise ~12,000 years ago | ||
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| 700 | 1 | |a Chunharas, Chaipat |e verfasserin |4 aut | |
| 700 | 1 | |a Pongpanich, Monnat |e verfasserin |4 aut | |
| 700 | 1 | |a Bennett, Mark F |e verfasserin |4 aut | |
| 700 | 1 | |a Srichomthong, Chalurmpon |e verfasserin |4 aut | |
| 700 | 1 | |a Pasutharnchat, Nath |e verfasserin |4 aut | |
| 700 | 1 | |a Suphapeetiporn, Kanya |e verfasserin |4 aut | |
| 700 | 1 | |a Bahlo, Melanie |e verfasserin |4 aut | |
| 700 | 1 | |a Shotelersuk, Vorasuk |e verfasserin |4 aut | |
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