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Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
Published on: January 28, 2014
Biomarkers
1Xuanwu Hospital, Capital Medical University, Beijing, China, Beijing, China.
Background:
Our study aims to evaluate the genetic and phenotypic spectrum of Frontotemporal dementia (FTD) gene variant carriers in Chinese populations, investigae mutation frequencies, and assess the functional properties of TBK1 and OPTN variants.
Methods:
Clinically diagnosed FTD patients underwent genetic analysis through exome sequencing, repeat-primed polymerase chain reaction, and Sanger sequencing. TBK1 and OPTN variants were biologically characterized in vitro using immunofluorescence, immunoprecipitation, and immunoblotting analysis. The frequencies of genes implicated in FTD in China were analyzed through a literature review and meta-analysis.
Results:
Of the 410 Chinese FTD patients, 95 (23.2%) carried potential causative variants in FTD-related genes. Among the 95 patients with gene mutations, 33 had a family history, and 62 patients are sporadic patients. The pathogenic gene results in FTD patients are as follows: 21 cases of the MAPT gene, 11 cases of the GRN gene, 10 cases of the ANXA11 gene, 8 cases of the TBK1 gene, 7 cases of the SQSTM1 gene, 6 cases of the OPTN gene, 4 cases each of the TARDBP, CHMP2B, and PRNP genes, 3 cases each of the FUS and NOTCH3 genes, 2 cases each of C9orf72 repeat expansion, CCNF, and VCP genes, and 1 case each of the HNRNPA1 gene, HTT repeat expansion, AR repeat expansion, SPAST, TREM2, CHCHD2, UBQLN2, and TUBA4A genes. Among them, 52 variants have not been reported in literature and can be considered novel, including the MAPT p.D54N, p.E342K, p.R221P, p.T263I, c.1733-7_1733-4del, TBK1 p.E696G, p.I37T, p.E232Q, p.S398F, p.T78A, p.Q150P, p.W259fs, p.Thr176Arg, p.Lys197Asnfs, p.Ala492Val, OPTN p.R144G, p.F475V, GRN p.V473fs, p.C307fs, p.R101fs, c.350-2A>C, p.Asp254Ter, p.A350V, CHMP2B p.K6N, p.R186Q, p.Lys130Glu, ANXA11 p.Q155Ter, p.Arg412Trp, CYLD p.T157I, p.V30I, p.Val195Ala, c.1021+3A>G, SQSTM1 p.S403A, p.V240I, p.Gly219Ser, p.Leu166Phe, p.Pro438Thr, UBQLN2 p.P509H, CCNF p.S160N, p.Asp606Asn, p.Gln762Serfs, p.His735Gln, CHCHD10 p.A8T, SIGMAR1 p.S117L, CHCHD2 p.P53fs, FUS p.S235G & p.S236G, PRNP c.2T>C p.Met1?, TUBA4A c.227-1G>T, p.Arg339Cys, TARDBP p.Trp385Ser, and TMEM106B p.L144V variants.
Conclusions:
Our study demonstrates the extensive genetic and phenotypic heterogeneity of Chinese FTD patients. MAPT, GRN, and TBK1 mutation carriers are the top three in Chinese FTD patients.
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