一个患有新型同卵脊柱后凸肽酶变异的病例的长期病理过程

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Journal of Human Genetics Pub Date : 2024-04-08 DOI:10.1038/s10038-024-01250-9

Yohei Misumi, Taro Yamashita, Aki Kuratomi, Yoshitaka Murakami, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda

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引用次数: 0

摘要

我们在此报告一例新型脊柱侧弯肽酶（KY）基因同源变异病例。一名 58 岁的日本女性因步态障碍转诊至我院，50 岁后步态障碍逐渐加重。她自幼患有双侧马蹄内翻足畸形。神经系统检查发现，她的颈部、躯干、股部和肱部肌肉中度无力，轻度呼吸衰竭和肢体瘫痪。全外显子组测序显示，KY基因存在一个新的同基因框移变异，即NM_178554.6:c.824del p.(Glu275Glyfs*53)。我们的病例表明，KY相关神经肌肉疾病可在漫长的自然病程中表现为极其缓慢的进行性肌无力和呼吸衰竭。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

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Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood. Neurological examination revealed moderate weakness of the neck, trunk, femoral, and brachial muscles, mild respiratory failure, and areflexia. Whole-exome sequencing revealed a novel homozygous frameshift variant of the KY gene, NM_178554.6:c.824del p.(Glu275Glyfs*53). Our case demonstrated that KY-associated neuromuscular disease can present with extremely slow progressive muscle weakness and respiratory failure over a long natural course.

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来源期刊

Journal of Human Genetics 生物-遗传学

CiteScore

7.20

自引率

0.00%

发文量

101

审稿时长

4-8 weeks

期刊介绍： The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy. Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.