Dataset Information

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

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.

SUBMITTER: Gonzalez-Del Angel A

PROVIDER: S-EPMC6499623 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

González-Del Angel Ariadna A Fernández-Hernández Liliana L Sánchez-Verdiguel Iraís I González-Núñez Aidy A Martínez-Cruz Víctor V Sánchez Carmen C Moreno-Rojas Rosario R Alcántara-Ortigoza Miguel Angel MA

Journal of pediatric genetics 20190102 2

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 re ...[more]

PMID: 31061744

Similar Datasets

Project description:BackgroundAn association between hearing impairment (HI) and congenital hypothyroidism (CH) has been reported previously. However, in general, studies were retrospective and had small sample sizes, and the results were variable and inconclusive. The aim of our study was to assess the prevalence of HI among patients with CH and to examine factors potentially predictive of HI including severity of CH, etiology of CH, and timing of treatment initiation.MethodsAudiometry was undertaken prospectively in 66 patients aged 3-21 years diagnosed with primary CH and 49 healthy matched controls. All patients with HI underwent examination by an otolaryngologist, and in patients with sensorineural loss, brainstem evoked response audiometry was performed. A next-generation sequencing (NGS) panel for genes involved in deafness was performed in patients with sensorineural HI to exclude additional genetic etiologies.ResultsHI was found in 19 patients (28.7%). Among them, 5 (7.6%) had moderate to severe bilateral sensorineural impairment and 14 (21.2%) had mild conductive HI. Conductive HI was bilateral in 5 of these patients (36%). None of the controls had HI. No specific etiology was found in patients with HI, and no differences were identified in age at diagnosis, age at initiation of levothyroxine (LT4) therapy, gender, or ethnicity between patients with and without HI. A nonsignificant trend toward lower mean screening TT4 levels was found in patients with HI (compared to those without HI) (3.42 vs. 5.34 μg/dL, p = 0.095). No pathogenic variants in genes attributed to HI were identified by NGS in the 5 patients with sensorineural deafness, indicating that HI in these patients was likely attributable to CH rather than other genetic etiologies.ConclusionsOur findings indicate a high prevalence of HI among patients with CH, predominantly of the conductive type. HI was not associated with the etiology of CH or with delayed initiation of LT4 therapy. Audiometry is recommended for children diagnosed with CH and repeat monitoring may be warranted to identify acquired HI and to prevent long-term sequelae of undiagnosed deafness.

Dataset Information

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

Publications

Gene Variants in <i>NKX2-1</i> Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets