hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Isabelle Le Ber; Inge van Bortel; Gael Nicolas; Kawtar Bouya-Ahmed; Agnès Camuzat; David Wallon; Anne de Septenville; Morwena Latouche; Serena Lattante; Edor Kabashi; Ludmila Jornea; Didier Hannequin; Alexis Brice

Article dans une revue

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Isabelle Le Ber ^{1, 2} Inge van Bortel Gael Nicolas Kawtar Bouya-Ahmed Agnès Camuzat ¹ David Wallon ³ Anne de Septenville ¹ Morwena Latouche Serena Lattante ¹ Edor Kabashi ⁴ Ludmila Jornea ¹ Didier Hannequin ⁵ Alexis Brice ^{4, *}

* Auteur correspondant

1 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière

2 CHU Pitié-Salpêtrière [AP-HP]

3 Service de neurologie [Rouen]

4 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute

5 GMFC - Génétique du cancer et des maladies neuropsychiatriques

Abstract : hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrophic lateral sclerosis (ALS). No study has evaluated the exact frequency of these genes in cohorts of MSP or FTD patients so far. We sequenced both genes in 17 patients with MSP phenotypes, and in 60 patients with FTLD and FTLD-ALS to test whether mutations could be implicated in the pathogenesis of these disorders. No disease-causing mutation was identified. We conclude that hnRNPA2B1 and hnRNPA1 mutations are rare in MSP and FTLD spectrum of diseases, although further investigations in larger populations are needed.

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio] / Santé publique et épidémiologie

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https://hal-unilim.archives-ouvertes.fr/hal-01245808
Contributeur : Elisabeth Grelier <>
Soumis le : jeudi 17 décembre 2015 - 16:36:52
Dernière modification le : jeudi 20 août 2020 - 03:05:27

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

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hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

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