A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35

Spinocerebellar ataxia 35 (SCA35) has been associated with pathogenic mutations in the gene TGM6. In a Chinese exome sequencing cohort, we identified 8 families with reported TGM6 variants sharing no features of SCA35. Considering this finding, we reviewed the public database gnomAD and found these...

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Veröffentlicht in:Parkinsonism & related disorders 2019-06, Vol.63, p.42-45
Hauptverfasser: Fung, Jasmine L.F., Tsang, Mandy H.Y., Leung, Gordon K.C., Yeung, Kit San, Mak, Christopher C.Y., Fung, Cheuk Wing, Chan, Sophelia H.S., Yu, Mullin H.C., Chung, Brian H.Y.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Asian Continental Ancestry Group - genetics
Child
Child, Preschool
Clinical genetics
Female
Genetic Predisposition to Disease - genetics
Humans
Infant
Infant, Newborn
Inflation analysis
Male
Mutation
Pedigree
Spinocerebellar ataxia
Spinocerebellar Ataxias - genetics
TGM6
Transglutaminases - genetics
Whole exome sequencing
Young Adult
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Zusammenfassung:Spinocerebellar ataxia 35 (SCA35) has been associated with pathogenic mutations in the gene TGM6. In a Chinese exome sequencing cohort, we identified 8 families with reported TGM6 variants sharing no features of SCA35. Considering this finding, we reviewed the public database gnomAD and found these variants to be significantly more common in the East Asians than in other ethnic groups (P 
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2019.01.013