Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
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DOI：
10.1590/s0004-27302012000300004
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发表时间：
2012-04-01
期刊：
影响因子：
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通讯作者：
Marui, Suemi
中科院分区：
文献类型：
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作者：
Brust, Ester S.;Beltrao, Cristine B.;Marui, Suemi
目的：对TD的各种形式进行精确分类，然后筛选在甲状腺发育中活跃的转录因子基因突变。对象和方法：患者接受超声，甲状腺扫描，血清甲状腺球蛋白测定，以准确诊断TD的形式。从外周血白细胞中提取DNA。所有患者均检测PAX 8和NKX2.5基因，发育不良者检测TSH受体（TSHR）基因。结果：27例非血缘TD患者中，异位13例，发育不全11例，甲状腺发育不全3例。在所研究的任何基因中均未检测到突变。结论：TD的散发病例可能是由表观遗传因素引起的，而不是甲状腺转录因子或甲状腺发育相关基因的突变。Arq布拉斯内分泌代谢2012;56（3）：173-7
Objectives: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. Subjects and methods: Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patients, and TSH receptor ( TSHR) gene in those with hypoplasia. Results: In 27 nonconsanguineous patients with TD, 13 were diagnosed with ectopia, 11 with hypoplasia, and 3 with athyreosis. No mutations were detected in any of the genes studied. Conclusion: Sporadic cases of TD are likely to be caused by epigenetic factors, rather than mutations in thyroid transcription factors or genes involved in thyroid development. Arq Bras Endocrinol Metab. 2012;56(3):173-7