Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 836-839, 2018.
Article
in Zh
| WPRIM
| ID: wpr-775825
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism.@*METHODS@#DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software.@*RESULTS@#Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father.@*CONCLUSION@#The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Full text:
1
Index:
WPRIM
Main subject:
Mutation, Missense
/
Congenital Hypothyroidism
/
Diagnosis
/
High-Throughput Nucleotide Sequencing
/
Dual Oxidases
/
Genetics
Type of study:
Diagnostic_studies
Limits:
Child
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article