Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

ABSTRACT:

Background

Congenital hypothyroidism (CH) is defined as the lack of thyroid hormones at birth. Mutations in at least 15 different genes have been associated with this disease. While up to 20% of CH cases are hereditary, the majority of cases are sporadic with unknown etiology. Apart from a monogenic pattern of inheritance, multigenic mechanisms have been suggested to play a role in CH. The genetics of CH has not been studied in Finland so far. Therefore, multigenic sequencing of CH candidate genes was performed in a Finnish patient cohort with both familial and sporadic CH.

Methods

A targeted next-generation sequencing (NGS) panel, covering all exons of the major CH genes, was applied for 15 patients with sporadic and 11 index cases with familial CH.

Results

Among the

SUBMITTER: Lof C 

PROVIDER: S-EPMC5036323 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature