Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 43-47, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928358
ABSTRACT
OBJECTIVE@#To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD).@*METHODS@#Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing.@*RESULTS@#Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene.@*CONCLUSION@#The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Glycosylation
/
China
/
Asian People
/
Exome Sequencing
/
Mutation
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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