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FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndr 时间:2017-09-17 22:23 来源:未知作者:admin 点击: 次 Abstract:A 26-year-old woman is referred to the Internal Medicine consultation due to increases in laboratory studies associated with Papillary Thyroid Carcinoma (PTC) that was confirmed by histopathological studies. Her clinical history revealed that, at 3 months of age, she was successfully treated with surgery for cleft lip (CL) and at the age of 24 years was diagnosed with hypothyroidism. Single nucleotide polymorphisms (SNPs) in FOXE1 and its promoter regions have been associated with various etiologies related to the thyroid, including orofacial clefting, specially cleft palate (CP) and CL, hypothyroidism (HT), and thyroid cancer. The association of CL, HT, and PTC might be component of a new syndrome; however FOXE1 coding region, which has been involved with these entities, has not exhibited mutations or SNPs. Further study of other genes may help in better characterization of the possible syndrome.
1. Introduction
Transcription factors NKX2-1, FOXE1, HHEX, and PAX8 are involved in cellular differentiation during embryogenesis. They play a critical role in the morphogenesis, differentiation, and maintenance of the thyroid gland. The FOXE1 gene encodes for a transcription factor protein that is expressed from the embryonic stage in the thyroid primordium until the development of the thyroid gland by the regulation of thyroid promoters [1]. Single nucleotide polymorphisms (SNPs) in this gene and its promoter regions have been associated with various etiologies related to the thyroid, including orofacial clefting, especially cleft palate (CP) and cleft lip (CL), hypothyroidism (HT), and thyroid cancer (TC).
CP and CL are common birth defects, particularly in Asian and Native American population, which have the highest rates of prevalence, in contrast to African population, which has the lowest. Both have a complex etiology, in that they possess multigenetic and multifactorial causes that have not been elucidated. However, research and mapping of the 9q22-q33 guided the associations with several SNPs located in the FOXE1 locus [2]. Actually, the genotypes involving the commonest alleles of rs3758249 (GG) and rs4460498 (CC) were the most associated with CP in Caucasian and Asian derived populations [3–5]. To note, both SNPs are located in a high linkage disequilibrium (LD) region, which also harbors the rs1867277 (−283G>A FOXE1) SNPs that have been reported as functional in thyroid cancer [6].
HT is the most common thyroid disorder. It is characterized by low production of thyroid hormones T3 and T4. Through Genome-Wide Association Studies (GWAS), various polymorphisms, including SNP located in the FOXE1 gene, have been identified with problems in the formation and differentiation of the thyroid, producing a predisposition to the disease [5].
TC is the most common endocrine malignancy, with a strong genetic component that has been shown to extend beyond the nuclear family. Histologically, it is classified as Papillary (PTC), Follicular (FTC), and Medullary (MTC) Carcinomas, and undifferentiated anaplastic thyroid carcinomas, and studies have suggested that gender, age, tumor size, histologic type, tumor infiltration, and vascular/lymphatic invasion affect clinical outcome and treatment options [13]. Evidence in multiple ethnicities has associated SNP with the same LD region as FOXE1 with PTC and MTC [1, 6]. The case described here represents unexpected combination of CL, HT, and PTC.