Le Ber Isabelle, Van Bortel Inge, Nicolas Gael, Bouya-Ahmed Kawtar, Camuzat Agnès, Wallon David, De Septenville Anne, Latouche Morwena, Lattante Serena, Kabashi Edor, Jornea Ludmila, Hannequin Didier, Brice Alexis
INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France; Assistance Publique-Hôpitaux de Paris, Département des maladies du système nerveux, Paris, France; Département de Neurologie, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France.
INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France.
Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9.
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.
最近，通过外显子组测序在三个患有多系统蛋白病（MSP）的家族中发现了hnRNPA2B1和hnRNPA1突变。多系统蛋白病是一种罕见的复杂表型，与额颞叶痴呆（FTLD）、骨佩吉特病（PDB）、包涵体肌病（IBM）和肌萎缩侧索硬化症（ALS）相关。迄今为止，尚无研究评估这些基因在MSP或FTD患者队列中的确切频率。我们对17例具有MSP表型的患者以及60例患有FTLD和FTLD-ALS的患者的这两个基因进行了测序，以测试突变是否可能与这些疾病的发病机制有关。未发现致病突变。我们得出结论，尽管需要在更大规模人群中进行进一步研究，但hnRNPA2B1和hnRNPA1突变在MSP和FTLD疾病谱中较为罕见。
