Mutations in proteasome-related genes are associated with thyroid hemiagenesis.

ABSTRACT:

Purpose

Human thyroid development is a complex and still unexplained process. Thyroid hemiagenesis is a congenital anomaly, where one of the thyroid lobes fails to develop. In the majority of patients with thyroid hemiagenesis, the genetic background remains unknown. The aim of the study was to search for novel genetic contributors to the etiology of thyroid hemiagenesis.

Methods

A cohort of 34 sporadic patients diagnosed with thyroid hemiagenesis and one three-generation family were subjected to comprehensive genomic examination. Initially, targeted screening of associated transcription factors, known to be linked to thyroid development, was performed. As a next step, genomic examinations were applied using high-resolution microarrays, whereas for the thyroid hemiagenesis f

SUBMITTER: Budny B 

PROVIDER: S-EPMC5395596 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature