以lenox - gastaut综合征为特征的atp6v1b2相关疾病:基于病例的综述

IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY
Greta Amore , Elisa Calì , Maria Spanò , Giorgia Ceravolo , Giuseppe Donato Mangano , Giovanna Scorrano , Stephanie Efthymiou , Vincenzo Salpietro , Henry Houlden , Gabriella Di Rosa
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引用次数: 0

摘要

背景:ATP6V1B2(ATP酶,H+转运,溶酶体VI亚基B,同种型2)编码普遍存在的跨膜溶酶体质子泵的一个亚基,与细胞内细胞器的酸化和其他一些细胞功能有关。ATP6V1B2的变异与一组异质性多系统疾病有关,有时与可变的神经系统受累有关。然而,由于报告的病例数量很少,我们对ATP6V1B2相关疾病的基因型-表型相关性和神经谱的了解仍然有限。病例研究:我们在此报告一例18岁的西西里男性患者,该患者患有以Lennox-Gastaut综合征(LGS)为特征的全身发育迟缓、骨骼异常和癫痫性脑病,其中外显子组测序导致在ATP6V1B2中鉴定出一种新的从头变体(NM_001693.4:c.973G>c,p.Gly325Arg)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview

Background

ATP6V1B2 (ATPase, H+ transporting, lysosomal VI subunit B, isoform 2) encodes for a subunit of a ubiquitous transmembrane lysosomal proton pump, implicated in the acidification of intracellular organelles and in several additional cellular functions. Variants in ATP6V1B2 have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurological involvement. However, our knowledge of genotype-phenotype correlations and the neurological spectrum of ATP6V1B2-related disorders remain limited due to the few numbers of reported cases.

Case study

We hereby report the case of an 18-year-old male Sicilian patient affected by a global developmental delay, skeletal abnormalities, and epileptic encephalopathy featuring Lennox-Gastaut syndrome (LGS), in which exome sequencing led to the identification of a novel de novo variant in ATP6V1B2 (NM_001693.4: c.973G > C, p.Gly325Arg).

Conclusions

Our report provides new insights on the inclusion of developmental epileptic encephalopathies (DEEs) within the continuum group of ATP6V1B2-related disorders, expanding the phenotypic and molecular spectrum associated with these conditions.

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来源期刊
Brain & Development
Brain & Development 医学-临床神经学
CiteScore
3.60
自引率
0.00%
发文量
153
审稿时长
50 days
期刊介绍: Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience. The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.
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