DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
Annals of Laboratory Medicine
;
: 145-153, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-151583
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 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.CONCLUSIONS:
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Tirotropina
/
Exones
/
Análisis de Secuencia de ADN
/
NADPH Oxidasas
/
Hipotiroidismo Congénito
/
Polimorfismo de Nucleótido Simple
/
Pueblo Asiatico
/
Estudios de Asociación Genética
/
República de Corea
/
Genotipo
Límite:
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2016
Tipo del documento:
Artículo
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