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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제24권 제3호
- 발행연도
- 2019.1
- 수록면
- 199 - 202 (4page)
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Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis. CH due to a TG gene mutation is one cause of thyroid dyshormonogenesis and can be characterized by goitrous CH with absent or low levels of serum thyroglobulin (Tg). In the present case, a 15-day-old neonate was referred to us with elevated thyroid stimulating hormone detected during a neonatal screening test. At the age of 34 months, extensive genetic testing was performed, including targeted exome sequencing for hypothyroidism, and revealed compound heterozygous mutations in the TG gene. Sanger sequencing of both parents’ DNA samples revealed a c.3790T> C (p.Cys1264Arg) mutation located at exon 17 inherited from the mother, and a c.4057C> T (p.Gln1353*) mutation located at exon 19 was inherited from the father. The c.4057C> T (p.Gln1353*) mutation located at exon 19 has never been reported and, therefore, is a new discovery. We report a case of primary permanent CH with compound heterozygous mutations of the TG gene, including a novel mutation.
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참고문헌 (13)
참고문헌 신청
Park SM / 2005 / Genetics of congenital hypothyroidism / J Med Genet 42:379~389
Rastogi MV / 2010 / Congenital hypothyroidism / Orphanet J Rare Dis 5:17
Perry RJ / 2002 / Ultrasound of the thyroid gland in the newborn: normative data / Arch Dis Child Fetal Neonatal Ed 87:F209~F211
Marchie TT / 2012 / Comparative ultrasound measurement of normal thyroid gland dimensions in school aged children in our local environment / Niger J Clin Pract 15:285~292
Targovnik HM / 2010 / Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations / Mol Cell Endocrinol 322:44~55
Rastogi MV / 2010 / Congenital hypothyroidism / Orphanet J Rare Dis 5:17
Perry RJ / 2002 / Ultrasound of the thyroid gland in the newborn: normative data / Arch Dis Child Fetal Neonatal Ed 87:F209~F211
Marchie TT / 2012 / Comparative ultrasound measurement of normal thyroid gland dimensions in school aged children in our local environment / Niger J Clin Pract 15:285~292
Targovnik HM / 2010 / Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations / Mol Cell Endocrinol 322:44~55
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