Analysis of genomic copy number variants in a patient with congenital type Pelizaeus-Merzbacher disease.
10.3760/cma.j.cn511374-20190914-00472
- Author:
Jingyi XIA
1
;
Zhongnan SHI
;
Hu GUO
Author Information
1. Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China. drhguo@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1150-1153
- CountryChina
- Language:Chinese
-
Abstract:
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: 102 192 246-103 045 526. 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.
