一个患有早发性常染色体显性遗传2P型夏科-马里-图斯病的家族中LRSAM1基因的一种新突变。

A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.

作者信息

Milella Giammarco, Amati Alessandro, Lastella Patrizia, Zanfardino Paola, Petruzzella Vittoria, Zoccolella Stefano

机构信息

Department of Neurology and Stroke Unit "F.M. Puca", AOU Consorziale Policlinico, Bari, Italy.

Department of Translational Biomedicine and Neurosciences (DiBraiN), University of Bari Aldo Moro, Bari, Italy.

出版信息

Clin Neurol Neurosurg. 2024 Feb;237:108158. doi: 10.1016/j.clineuro.2024.108158. Epub 2024 Feb 3.

DOI:10.1016/j.clineuro.2024.108158

PMID:38330802

Abstract

Charcot-Marie-Tooth disease type 2P (CMT2P; MIM #614436) is a specific type of axonal neuropathy caused by mutations in the LRSAM1 gene, which is a RING-type E3 ubiquitin ligase. CMT2P can be inherited in two ways: as an autosomal dominant or autosomal recessive trait. In this report, we describe the clinical characteristics of a family with axonal sensory-motor neuropathy caused by a new variant of the LSRAM1 gene, which is associated with early-onset autosomal dominant CMT2P.

摘要

2P型夏科-马里-图思病（CMT2P；MIM #614436）是一种由LRSAM1基因突变引起的特定类型的轴索性神经病，LRSAM1基因是一种环型E3泛素连接酶。CMT2P可通过两种方式遗传：作为常染色体显性或常染色体隐性性状。在本报告中，我们描述了一个由LSRAM1基因新变异导致的轴索性感觉运动神经病家族的临床特征，该变异与早发性常染色体显性CMT2P相关。