DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

ABSTRACT:

Background

Most cases with congenital hypothyroidism (CH) are usually sporadic, while about 20% of the cases are caused by genetic defects. Little information is available regarding the mutation incidence and genetic heterogeneity of CH in Koreans. We aimed to determine the mutation incidence of CH in newborn screenings (NBS) and to evaluate the frequency and spectrum of mutations underlying CH.

Methods

A total of 112 newborns with thyroid dysfunction were enrolled from 256,624 consecutive NBS. Furthermore, 58 outpatients with primary CH were added from an endocrine clinic. All coding exons of TSHR, PAX8, TPO, DUOX2, DUOXA2, and SCL5A5 were sequenced.

Results

The mutation incidence of CH was estimated to be 1 in 6,580 newborns. A total of 36 different mutations were i

SUBMITTER: Park KJ 

PROVIDER: S-EPMC4713848 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature