A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
Abstract Spinocerebellar ataxia type 11 (SCA11) is a rare disease and tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only seven SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplicated mutation (c.1211_1217dupAGGAGAA) of TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in frameshift mutation and formed a premature stop codon (p. N406Kfs*47). The mutation was detected in the proband’s affected brother, and his unaffected mother, who with a lower percentage of the mutation and considered as an asymptomatic mutation carrier. Our study delineated the genotypic spectrum of SCA11..
| Medienart: |
|
|---|
Preprint| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
ResearchSquare.com - (2023) vom: 23. Okt. Zur Gesamtaufnahme - year:2023 |
|---|
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Lu, Ying-Qian [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| doi: |
10.21203/rs.3.rs-2618458/v1 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
XRA038941139 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | XRA038941139 | ||
| 003 | DE-627 | ||
| 005 | 20231024130451.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230314s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.21203/rs.3.rs-2618458/v1 |2 doi | |
| 035 | |a (DE-627)XRA038941139 | ||
| 035 | |a (ResearchSquare)10.21203/rs.3.rs-2618458/v1 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Lu, Ying-Qian |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11 |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a Abstract Spinocerebellar ataxia type 11 (SCA11) is a rare disease and tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only seven SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplicated mutation (c.1211_1217dupAGGAGAA) of TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in frameshift mutation and formed a premature stop codon (p. N406Kfs*47). The mutation was detected in the proband’s affected brother, and his unaffected mother, who with a lower percentage of the mutation and considered as an asymptomatic mutation carrier. Our study delineated the genotypic spectrum of SCA11. | ||
| 650 | 4 | |a Biology |7 (dpeaa)DE-84 | |
| 650 | 4 | |a 570 |7 (dpeaa)DE-84 | |
| 700 | 1 | |a Chen, Jian-Min |4 aut | |
| 700 | 1 | |a Huang, Ya-Li |4 aut | |
| 700 | 1 | |a Zou, Zhang-Yu |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t ResearchSquare.com |g (2023) vom: 23. Okt. |
| 773 | 1 | 8 | |g year:2023 |g day:23 |g month:10 |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s12311-023-01616-3 |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u http://dx.doi.org/10.21203/rs.3.rs-2618458/v1 |z kostenfrei |3 Volltext |
| 912 | |a GBV_XRA | ||
| 951 | |a AR | ||
| 952 | |j 2023 |b 23 |c 10 | ||