A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome

Rojan Ipek; Sevcan Tug Bozdogan; Mustafa Kömür; Cetin Okuyaz

doi:10.1055/s-0041-1740457

A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome

J Pediatr Genet. 2021 Dec 13;13(2):144-148. doi: 10.1055/s-0041-1740457. eCollection 2024 Jun.

Authors

Rojan Ipek¹, Sevcan Tug Bozdogan², Mustafa Kömür³, Cetin Okuyaz³

Affiliations

¹ Department of Pediatrics, Division of Neurology, Training and Research Hospital, Adıyaman University, Adıyaman, Turkey.
² Department of Medical Genetics, Medical Faculty, Çukurova University, Adana, Turkey.
³ Department of Pediatrics, Division of Neurology, Medical Faculty, Mersin University, Mersin, Turkey.

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.

Keywords: SLC16A2; fT3 level; hypotonia; mental retardation.