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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.7
- 수록면
- 888 - 890 (3page)
- DOI
- 10.3349/ymj.2017.58.4.888
이용수
초록· 키워드
오류제보하기
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism(CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygousmutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screeningand were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated. The two girls harbored compound heterozygous mutations, including a new mutation of c.2654G>T (p.R885L) in the maternal DUOX2 allele and c.738C>G (p.Y246X) in the paternal DUOXA2 allele, that has been previously reported. The germline mutations from the families were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO gene and the controls were observed.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Anjum A / 2014 / Congenital hypothyroidism in neonates / Indian J Endocrinol Metab 18:213~216
Szinnai G / 2014 / Genetics of normal and abnormal thyroid development in humans / Best Pract Res Clin Endocrinol Metab 28:133~150
Corvilain B / 1991 / The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid / Endocrinology 128:779~785
Grasberger H / 2006 / Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent / J Biol Chem 281:18269~18272
Grasberger H / 2010 / Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism / Mol Cell Endocrinol 322:99~106
Szinnai G / 2014 / Genetics of normal and abnormal thyroid development in humans / Best Pract Res Clin Endocrinol Metab 28:133~150
Corvilain B / 1991 / The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid / Endocrinology 128:779~785
Grasberger H / 2006 / Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent / J Biol Chem 281:18269~18272
Grasberger H / 2010 / Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism / Mol Cell Endocrinol 322:99~106
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