High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

ABSTRACT:

Objective

Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients' inclusion criteria and bioinformatics. The objective was to study the molecular basis of severe congenital hypothyroidism, using the next generation sequencing (NGS) and the recent guidelines for assessment of sequence variants.

Design

243 patients with CH (TSH levels at neonatal screening or retesting greater than 90 mU/l) and 56 control subjects were included in the study.

Methods

A custom NGS panel targeting 12 CH causative genes was used for sequencing. The sequence variants were rated according to American College of Medical Genetics and Genomics (ACMG) guidelines.

Results

In total, 48 pathoge

SUBMITTER: Makretskaya N 

PROVIDER: S-EPMC6150524 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature