J Pediatr Genet 2019; 08(02): 041-046
DOI: 10.1055/s-0038-1676644
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population

Ariadna González-del Angel*
1  Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México
,
Liliana Fernández-Hernández*
1  Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México
,
Iraís Sánchez-Verdiguel
2  Médico Adscrito de Pediatría, Instituto Nacional de Pediatría, Ciudad de México, México. Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM
,
Aidy González-Núñez
3  Endocrinología Pediátrica, Hospital Regional Materno Infantil de Alta Especialidad de Nuevo León, Guadalupe, México
,
Víctor Martínez-Cruz
1  Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México
,
Carmen Sánchez
4  Laboratorio de Seguimiento del Neurodesarrollo, Instituto Nacional de Pediatría, Ciudad de México, México
,
Rosario Moreno-Rojas
4  Laboratorio de Seguimiento del Neurodesarrollo, Instituto Nacional de Pediatría, Ciudad de México, México
,
Miguel Angel Alcántara-Ortigoza
1  Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México
› Author Affiliations
Further Information

Publication History

04 September 2018

12 November 2018

Publication Date:
02 January 2019 (eFirst)

Abstract

Congenital hypothyroidism (CH), attributable to thyroid dysgenesis (TD), has an unusually high prevalence in Mexican population but the causes are unknown. NKX2-1, as a candidate gene, was subjected to automated Sanger sequencing in 122 unrelated Mexican patients with CH/TD. Although this study includes the largest number of TD-related CH patients in whom NKX2-1 has been analyzed, no pathogenic variants were detected; only three benign polymorphic changes were identified. These results suggest that NKX2-1 is not a major contributor to the etiology of CH or its high prevalence in Mexicans. Our work identifies misannotations of NKX2-1 variants in three previous published reports.