FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?
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 su...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/6390545 |
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| author | Hugo Mendieta-Zerón Angélica Jiménez-Rosales Carlos Jhovani Pérez-Amado Silvia Jiménez-Morales |
| author_facet | Hugo Mendieta-Zerón Angélica Jiménez-Rosales Carlos Jhovani Pérez-Amado Silvia Jiménez-Morales |
| author_sort | Hugo Mendieta-Zerón |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f4c66a1781fa4b6da1af676a870bcd8c |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-f4c66a1781fa4b6da1af676a870bcd8c2025-02-03T05:47:36ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/63905456390545FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?Hugo Mendieta-Zerón0Angélica Jiménez-Rosales1Carlos Jhovani Pérez-Amado2Silvia Jiménez-Morales3Ciprés Grupo Médico S.C. (CGM), Felipe Villanueva 700, Col. Morelos, 50120 Toluca, MEX, MexicoCiprés Grupo Médico S.C. (CGM), Felipe Villanueva 700, Col. Morelos, 50120 Toluca, MEX, MexicoPrograma de Maestría en Ciencias Bioquímicas, Universidad Nacional Autónoma de México (UNAM), Mexico City, MexicoInstituto Nacional de Medicina Genómica (INMEGEN), Mexico City, MexicoA 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.http://dx.doi.org/10.1155/2017/6390545 |
| spellingShingle | Hugo Mendieta-Zerón Angélica Jiménez-Rosales Carlos Jhovani Pérez-Amado Silvia Jiménez-Morales FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? Case Reports in Genetics |
| title | FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? |
| title_full | FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? |
| title_fullStr | FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? |
| title_full_unstemmed | FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? |
| title_short | FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? |
| title_sort | foxe1 mutation screening in a case with cleft lip hypothyroidism and thyroid carcinoma a new syndrome |
| url | http://dx.doi.org/10.1155/2017/6390545 |
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