PDF(Pubmed)
Abstract：
Hypomyelinating leukodystrophies are a heterogeneous group of inherited white matter disorders characterized by a predominant absence of myelin deposits in the central nervous system.
UNASSIGNED: The patient was a one-year-old girl child. She at the age of 6 months was hospitalized due to loose, muscle weakness, and an upward gaze for 7-8 min with complaints of fever and convulsions.
UNASSIGNED: Using the test of whole exome sequencing, a nonsense homozygous mutation was found in the PYCR2 gene, which a mutation in the PYCR2 gene causes hypomyelinating leukodystrophy type 10 disease.
UNASSIGNED: Advances in the field of genetics, increased awareness, and the increasing availability of genetic testing in small cities in developing countries are helping to better assess complex neurological disorders and establish a complete diagnosis.
UNASSIGNED: The patient was a one-year-old girl child. She at the age of 6 months was hospitalized due to loose, muscle weakness, and an upward gaze for 7-8 min with complaints of fever and convulsions.
UNASSIGNED: Using the test of whole exome sequencing, a nonsense homozygous mutation was found in the PYCR2 gene, which a mutation in the PYCR2 gene causes hypomyelinating leukodystrophy type 10 disease.
UNASSIGNED: Advances in the field of genetics, increased awareness, and the increasing availability of genetic testing in small cities in developing countries are helping to better assess complex neurological disorders and establish a complete diagnosis.
摘要：
髓鞘减少性脑白质营养不良是一组异质性的遗传性白质疾病，其特征是中枢神经系统中主要没有髓鞘沉积。
■患者是一个一岁的女童。她在6个月大的时候因松弛住院，肌肉无力,并向上凝视7-8分钟，伴有发烧和抽搐。
■使用全外显子组测序测试，在PYCR2基因中发现了一个无义纯合突变，PYCR2基因中的突变会导致10型白细胞营养不良。
■遗传学领域的进展，提高认识,发展中国家的小城市越来越多的基因检测有助于更好地评估复杂的神经系统疾病并建立完整的诊断。
■患者是一个一岁的女童。她在6个月大的时候因松弛住院，肌肉无力,并向上凝视7-8分钟，伴有发烧和抽搐。
■使用全外显子组测序测试，在PYCR2基因中发现了一个无义纯合突变，PYCR2基因中的突变会导致10型白细胞营养不良。
■遗传学领域的进展，提高认识,发展中国家的小城市越来越多的基因检测有助于更好地评估复杂的神经系统疾病并建立完整的诊断。
