DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

ABSTRACT:

Objective

To identify the genetic etiologies of congenital primary hypothyroidism (CH) in Thai patients.

Design and methods

CH patients were enrolled. Clinical characteristics including age, signs and symptoms of CH, pedigree, family history, screened thyroid-stimulating hormone results, thyroid function tests, thyroid imaging, clinical course and treatment of CH were collected. Clinical exome sequencing by next-generation sequencing was performed. In-house gene list which covered 62 potential candidate genes related to CH and thyroid disorders was developed for targeted sequencing. Sanger sequencing was performed to validate the candidate variants. Thyroid function tests were determined in the heterozygous parents who carried the same DUOX2 or DUOXA2 variants as their offsp

SUBMITTER: Sorapipatcharoen K 

PROVIDER: S-EPMC7774760 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature