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Bvvl/ Fl: Features Caused by Slc52a3 Mutations; Wdfy4 and Tnfsf13b May Be Novel Causative Genes Publisher Pubmed



Khani M1 ; Shamshiri H2 ; Taheri H1 ; Hardy J3 ; Bras JT3 ; Carmona S3 ; Moazzeni H1 ; Alavi A4 ; Heshmati A1 ; Taghizadeh P1 ; Nilipour Y5 ; Ghazanfari T6 ; Shahabi M7 ; Okhovat AA2 Show All Authors
Authors
  1. Khani M1
  2. Shamshiri H2
  3. Taheri H1
  4. Hardy J3
  5. Bras JT3
  6. Carmona S3
  7. Moazzeni H1
  8. Alavi A4
  9. Heshmati A1
  10. Taghizadeh P1
  11. Nilipour Y5
  12. Ghazanfari T6
  13. Shahabi M7
  14. Okhovat AA2
  15. Rohani M8
  16. Valle G9
  17. Boostani R10
  18. Abdi S2
  19. Eshghi S10
  20. Nafissi S2, 11
  21. Elahi E1

Source: Neurobiology of Aging Published:2021


Abstract

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis–like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3 were found in 7 probands. More importantly, only 1 mutated allele was observed in several patients, and variable expressivity and incomplete penetrance were clearly noted. Environmental insults may contribute to variable presentations. Putative causative mutations in other genes were identified in 3 probands. Two of the genes, WDFY4 and TNFSF13B, have immune-related functions. Inflammatory responses were implicated in the patient with the WDFY4 mutation. Malfunction of the immune system and mitochondrial anomalies were shown in the patient with the TNFSF13B mutation. Prevalence of heterozygous SLC52A3 BVVL causative mutations and notable variability in expressivity of homozygous and heterozygous genotypes are being reported for the first time. Identification of WDFY4 and TNFSF13B as candidate causative genes supports conjectures on involvement of the immune system in BVVL and amyotrophic lateral sclerosis. © 2020 Elsevier Inc.
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