Case Reports in Genetics / 2017 / Article / Tab 2

Case Report

FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Table 2

SNPs found in FOXE1 related to orofacial clefts: cleft lip (CL) and cleft palate (CP), papillary thyroid cancer, and hypothyroidism.

PathologySNP in FOXE1 or in its promoter regionsSample/population

Orofacial clefts CL/Prs4460498Americans, Colombians, Danish, Filipinos, Norwegian [3].
rs894673Americans, Colombians, Filipinos [3].
rs3758249African-Brazilians, Americans, Central-Europeans, Colombians, Danish, Filipinos, Mayan-Mesoamerican, Norwegian [3, 4, 7].
rs1867278Americans, Filipinos, Norwegians, Danish [3, 4].
rs1867280Americans, Colombians, Danish, Filipinos, Norwegian [3].
rs7850258Human fetal oral epithelial thyroid cell line, Caucasian Europeans, Hondurans [3, 5].
rs12342417Europeans [5, 7].
rs10984103Europeans, Filipinos [8].
rs4460498Central-Europeans, Mayan-Mesoamerican [8].
Papillary thyroid cancerrs1867277Caucasian Australians, Italians, Japanese, Portuguese, Spanish, Turkish [6, 912].
rs7850258Rat FRTL epithelial thyroid cell line, zebra fish, mouse [5].
rs965513Colombians, European descents, Germans, Icelandics, Japanese, Polynesians, Portuguese [1216].
rs894673Turkish [10].
rs3758249Caucasian Australians, Turkish [10, 11].
rs907577Caucasian Australians [11].
rs3021526Caucasian Australians [11].
rs1443434Caucasian Australians [11].
rs907580Caucasian Australians [11].
Rs7849497Portuguese [13].
Rs1867278Portuguese [13].
Rs1867279Portuguese [13].
Rs1867280Portuguese [13].
Hypothyroidismrs7850258Rat FRTL epithelial thyroid cell line, zebra fish, mouse, European [5, 17].
rs965513Europeans [17].
rs925489Europeans [17].
rs10759944Europeans [17].

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