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
Dans Zh
| WPRIM
| ID: wpr-775825
Responsable en Bibliothèque :
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Mutation faux-sens
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Hypothyroïdie congénitale
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Diagnostic
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Séquençage nucléotidique à haut débit
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Dual oxydases
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Génétique
Type d'étude:
Diagnostic_studies
Limites du sujet:
Child
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Humans
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Male
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article