NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

ABSTRACT:

Background

A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation. Aim of the study was to elucidate the genotype-phenotype correlation in our patient.

Methods

We performed genetic analysis of the NKX2.1 gene in an infant with no neonatal respiratory distress and near-normal results at neonatal screening test for congenital hypothyroidism, choreoathetosis, ataxia and delayed independent walking.

Results

A novel mutation of the NKX2.1 gene has been identified, that is responsible for a mild framework of congenital hyp

SUBMITTER: Monti S 

PROVIDER: S-EPMC4477322 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature