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.

Pathology	SNP in FOXE1 or in its promoter regions	Sample/population
Orofacial clefts CL/P	rs4460498	Americans, Colombians, Danish, Filipinos, Norwegian [3].
	rs894673	Americans, Colombians, Filipinos [3].
	rs3758249	African-Brazilians, Americans, Central-Europeans, Colombians, Danish, Filipinos, Mayan-Mesoamerican, Norwegian [3, 4, 7].
	rs1867278	Americans, Filipinos, Norwegians, Danish [3, 4].
	rs1867280	Americans, Colombians, Danish, Filipinos, Norwegian [3].
	rs7850258	Human fetal oral epithelial thyroid cell line, Caucasian Europeans, Hondurans [3, 5].
	rs12342417	Europeans [5, 7].
	rs10984103	Europeans, Filipinos [8].
	rs4460498	Central-Europeans, Mayan-Mesoamerican [8].
Papillary thyroid cancer	rs1867277	Caucasian Australians, Italians, Japanese, Portuguese, Spanish, Turkish [6, 9–12].
	rs7850258	Rat FRTL epithelial thyroid cell line, zebra fish, mouse [5].
	rs965513	Colombians, European descents, Germans, Icelandics, Japanese, Polynesians, Portuguese [12–16].
	rs894673	Turkish [10].
	rs3758249	Caucasian Australians, Turkish [10, 11].
	rs907577	Caucasian Australians [11].
	rs3021526	Caucasian Australians [11].
	rs1443434	Caucasian Australians [11].
	rs907580	Caucasian Australians [11].
	Rs7849497	Portuguese [13].
	Rs1867278	Portuguese [13].
	Rs1867279	Portuguese [13].
	Rs1867280	Portuguese [13].
Hypothyroidism	rs7850258	Rat FRTL epithelial thyroid cell line, zebra fish, mouse, European [5, 17].
	rs965513	Europeans [17].
	rs925489	Europeans [17].
	rs10759944	Europeans [17].