: Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication in exons 15 and 16. The patient presented with limb-onset ALS and a complex past medical history because of Sjögren syndrome, antiphospholipid antibodies positivity, polyallergies, endometriosis, aldosterone-secreting adrenal cortical adenoma, congenital vesicoureteral reflux, and right breast hypoplasia. We discuss MATR3 effect in ALS and the role of this previously undescribed mutation in this peculiar ALS phenotype associated with systemic autoimmunity involvement.

Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders / Caputo, Maria; Zucchi, Elisabetta; Martinelli, Ilaria; Gianferrari, Giulia; Simonini, Cecilia; Amedei, Amedeo; Niccolai, Elena; Gellera, Cinzia; Pensato, Viviana; Mandrioli, Jessica. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-3478. - 43:2(2022), pp. 1419-1421. [10.1007/s10072-021-05669-2]

Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders

Zucchi, Elisabetta;Martinelli, Ilaria;Gianferrari, Giulia;Simonini, Cecilia;Mandrioli, Jessica
2022

Abstract

: Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication in exons 15 and 16. The patient presented with limb-onset ALS and a complex past medical history because of Sjögren syndrome, antiphospholipid antibodies positivity, polyallergies, endometriosis, aldosterone-secreting adrenal cortical adenoma, congenital vesicoureteral reflux, and right breast hypoplasia. We discuss MATR3 effect in ALS and the role of this previously undescribed mutation in this peculiar ALS phenotype associated with systemic autoimmunity involvement.
2022
43
2
1419
1421
Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders / Caputo, Maria; Zucchi, Elisabetta; Martinelli, Ilaria; Gianferrari, Giulia; Simonini, Cecilia; Amedei, Amedeo; Niccolai, Elena; Gellera, Cinzia; Pensato, Viviana; Mandrioli, Jessica. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-3478. - 43:2(2022), pp. 1419-1421. [10.1007/s10072-021-05669-2]
Caputo, Maria; Zucchi, Elisabetta; Martinelli, Ilaria; Gianferrari, Giulia; Simonini, Cecilia; Amedei, Amedeo; Niccolai, Elena; Gellera, Cinzia; Pensa...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1269182
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