摘要
目的探讨1例先天型佩梅病的基因型与表型特征。方法回顾性分析1例先天型佩梅病患儿的临床、影像学及遗传学特点。结果患儿生后四肢肌张力显著减低,眼球水平震颤渐明显,运动发育落后,6月龄头颅MRI提示脑白质未见髓鞘化。临床全外显子检测未发现致病性变异,捕获测序拷贝数变chrX:102192246-103045526区域检测到大小约853 kb的片段重复,在DECIPHER数据库中被报道与佩梅病相关,经QPCR验证该变异来源于母亲,为致病性变异,确诊先天型佩梅病。结论生后四肢肌张力低、眼球震颤、运动发育落后、头颅MRI提示脑白质未见髓鞘化应考虑到先天型佩梅病可能,进行基因检测时注意单基因点变异及拷贝数变异,以明确诊断有利于遗传咨询。
Objective To explore the genotypic and phenotypic characteristics of a child with congenital Pelizaeus-Merzbacher disease.Methods Clinical,imaging and genetic characteristics of the child were retrospectively analyzed.Results The patient manifested significantly reduced muscle tension,apparent tremor of eyeballs,and retardation of motor development after birth.Cranial MRI at 6-month-old showed no myelinization of brain white matter,though no pathogenic variant was detected by clinical exome sequencing.A copy number variation was found at chrX:102192246-103045526.The duplication has spanned approximately 853 kb and was recorded in the Decipher database to be associated with Pelizaeus-Merzbacher disease.Quantitative PCR confirmed that the duplication has derived from his mother.Conclusion Reduced muscle tension,nystagmus,poor motor development,and absence of myelinization of white matter should alert the diagnosis of congenital type Pelizaeus-Merzbacher disease.Both sequence variant and copy number variation should be searched upon genetic testing.A clear diagnosis is required for genetic counseling.
作者
夏静宜
石中南
郭虎
Xia Jingyi;Shi Zhongnan;Guo Hu(Department of Neurology,Children’s Hospital of Nanjing Medical University,Nanjing,Jiangsu 210008,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第10期1150-1153,共4页
Chinese Journal of Medical Genetics
关键词
先天型佩梅病
拷贝数变异
基因型
表型
Congenital Pelizaeus-Merzbacher disease
Copy number variation
Genotype
Phenotype
