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


ABSTRACT: 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.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.The mutation incidence of CH was estimated to be 1 in 6,580 newborns. A total of 36 different mutations were identified in 53 cases. The overall mutation positive rate was 31%. The DUOX2 mutations were the most prevalent in both newborns and outpatients. Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH.The mutation incidence of CH was considerably higher than expected in the Korean newborn population. This study revealed seven different recurrent mutations underlying CH. We conclude that DUOX2 mutations are a frequent cause of CH in the Korean population.

SUBMITTER: Park KJ 

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

REPOSITORIES: biostudies-literature

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

Park Kyoung-Jin KJ   Park Hyun-Kyung HK   Kim Young-Jin YJ   Lee Kyoung-Ryul KR   Park Jong-Ho JH   Park June-Hee JH   Park Hyung-Doo HD   Lee Soo-Youn SY   Kim Jong-Won JW  

Annals of laboratory medicine 20160301 2


<h4>Background</h4>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.<h4>Methods</h4>A total of 112 newborns with thyroid dysfunction were enrolled from 256,624 co  ...[more]

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