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February 2021; 7 (1) Clinical/Scientific NotesOpen Access

Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis

Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
First published January 12, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000552
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    Figure Somatic Mosaicism of FUS Variant Causing Familial Amyotrophic Lateral Sclerosis With Different Clinical Courses Within the Family (A) Pedigree of the Family

    Black symbols indicate individuals affected by amyotrophic lateral sclerosis. Asterisks indicate individuals whose DNA was studied. Case 1 (II-6) is the index patient (arrow) with mosaic variant of FUS. (B) Sanger sequencing of DNA from peripheral blood of the unaffected father (II-5) shows wild type. Sanger sequencing of DNA from peripheral blood of case 2 (III-5) clearly shows a heterozygous FUS variant (c.1542_1545delGGGT, p.Gly515Serfs13*). Sanger sequencing of DNA from peripheral blood, saliva, hair, and nail samples of case 1 (II-6) confirms different frequencies of FUS mutant allele in various tissues. Black arrows indicate start of deletion. Sequencing results are shown in reverse. Supplementary data and table, links.lww.com/NXG/A369 contain additional details on the methodology. FUS = Fused-in-sarcoma.

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