Analysis of genomic copy number variants in a patient with congenital type Pelizaeus-Merzbacher disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1150-1153, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-827722
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.
Full text:
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Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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