Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 887-890, 2020.
Article
em Zh
| WPRIM
| ID: wpr-826463
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WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity.@*METHODS@#High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene.@*RESULTS@#DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother.@*CONCLUSION@#The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.
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WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Article