Dystonia - isolated/combined
STR: XDP
Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression.
Sources: Expert listCreated: 28 Aug 2021, 10:23 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dystonia-Parkinsonism, X-linked MIM#314250
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: xdp has been classified as Green List (High Evidence).
Str: xdp has been classified as Green List (High Evidence).
STR: XDP was added STR: XDP was added to Dystonia - isolated/combined. Sources: Expert list founder tags were added to STR: XDP. Mode of inheritance for STR: XDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: XDP were set to 17273961; 29229810 Phenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250 Review for STR: XDP was set to GREEN STR: XDP was marked as clinically relevant