{Reference Type}: Journal Article
{Title}: A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome.
{Author}: Ipek R;Bozdogan ST;Kömür M;Okuyaz C;
{Journal}: J Pediatr Genet
{Volume}: 13
{Issue}: 2
{Year}: 2024 Jun
暂无{DOI}: 10.1055/s-0041-1740457
{Abstract}: Allan-Herndon-Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the SLC16A2 gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the SLC16A2 gene has been described in the present article.