GIGUET-VALARD, Anna-Gaelle; BELLANCE, Remi; JEANNIN, Severine; DUCLOS, Sophie; OLIVE, Pascale; ALLARD-SAINT-ALBIN, Oriane; CAZENEUVE, Cecile; CLOT, Fabienne; PITTION-VOUYOVITCH, Sophie; BARNETCHE, Thomas; SMITH-RAVIN, Juliette; GOIZET, Cyril

doi:10.1080/21678421.2021.1900870

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GIGUET-VALARD, Anna-Gaelle

BELLANCE, Remi

JEANNIN, Severine

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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2021-03-23

Resumen en inglés

Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms. In more than half of the familial forms, a pathogenic variant is found in one of the following genes: C9ORF72, SOD1, TDP-43, FUS, and VCP. SOD1 is the 2nd most common gene involved in genetic forms of ALS. Genotype-phenotype relationships are occasionally established in genetic forms of ALS associated with SOD1 mutations pathogenic variants. The c.281G > T (p.[G93V]) variant in SOD1 is associated with a rarely described and unexplained anticipation phenomenon. We report a large family from Martinique in whom ALS is associated with a c.281G > T (p.[G93V]) pathogenic variant in SOD1 and a statistically suggested anticipation. A whole-exome study and detection of CNVs (CoDESeq) from 3 affected members of this family revealed the presence of variants of uncertain signification (VUS) in other ALS genes. VUS in DCTN1 and NEFH were present in patients of the 2nd generation, and CNVs involving UBQLN2 and C21orf2 were found in the youngest case of the family.< Leer menos

Palabras clave en inglés

Anticipation

CoDE-Seq method

Genetic Amyotrophic Lateral Sclerosis

Next Generation Sequencing

URI

https://oskar-bordeaux.fr/handle/20.500.12278/117087

DOI

http://dx.doi.org/10.1080/21678421.2021.1900870

Proyecto ANR

EGID Diabetes Pole - ANR-10-LABX-0046
Plate forme Lilloise de séquençage du génome humain pour une médecine personnalisée - ANR-10-EQPX-0007

Centros de investigación

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211