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J Pediatr Genet
DOI: 10.1055/s-0041-1740457
Case-Based Review

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

Rojan Ipek 
1   Department of Pediatrics, Division of Neurology, Training and Research Hospital, Adıyaman University, Adıyaman, Turkey
,
Sevcan Tug Bozdogan
2   Department of Medical Genetics, Medical Faculty, Çukurova University, Adana, Turkey
,
Mustafa Kömür
3   Department of Pediatrics, Division of Neurology, Medical Faculty, Mersin University, Mersin, Turkey
,
Cetin Okuyaz
3   Department of Pediatrics, Division of Neurology, Medical Faculty, Mersin University, Mersin, Turkey
› Author Affiliations Funding None.
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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

fT3 level - hypotonia - mental retardation - SLC16A2


Publication History

Received: 01 April 2021

Accepted: 31 October 2021

Article published online:
13 December 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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