The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation

Introduction: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic variations in the levels of thyroid hormones in AHDS pa...

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Autores principales:	Shahab Noorian, Sepideh Hamzehlou, Ali Rabbani, Arya Sotoudeh, Kioumars Pour Rostami, Shahram Savad
Formato:	article
Lenguaje:	EN
Publicado:	Iran University of Medical Sciences 2021
Materias:	allan-herndon-dudley syndrome (ahds) slc16a2 whole-exome sequencing Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/fb63f76045ee4c94861c790665d6b0e4
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spelling	oai:doaj.org-article:fb63f76045ee4c94861c790665d6b0e42021-12-05T08:43:45ZThe Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation2008-126X2228-7442https://doaj.org/article/fb63f76045ee4c94861c790665d6b0e42021-07-01T00:00:00Zhttp://bcn.iums.ac.ir/article-1-1552-en.htmlhttps://doaj.org/toc/2008-126Xhttps://doaj.org/toc/2228-7442Introduction: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic variations in the levels of thyroid hormones in AHDS patients, we believe that the disorder is often underdiagnosed. Here, we reported a 3.5-year-old boy with an AHDS diagnosis and healthy thyroid hormones. Methods: Whole-Exome sequencing followed by data analysis was performed on the patient’s sample. The mutation was confirmed by Sanger sequencing in the patient and his mother. Results: We reported a 3.5-year-old boy with AHDS diagnosis and a novel synonymous missense mutation (c. 1026G>A) in the SLC16A2 gene manifesting normal levels of T3, T4, and TSH. The mutation causes no change in amino acid sequence; however, it affects splicing through alteration of an exonic splicing enhancer. To the best of our knowledge, there are only 3 similar reports in the literature reporting AHDS diagnosis and normal levels of thyroid hormones. Conclusion: The altered levels of thyroid hormones are notable but not necessary markers for diagnosing AHDS. The candidate diagnosis of AHDS should be considered in patients with X-linked recessive intellectual disability syndrome with neuromuscular involvements irrespective of levels of thyroid hormones; otherwise, it could lead to the under-diagnosis of the disorder.Shahab NoorianSepideh HamzehlouAli RabbaniArya SotoudehKioumars Pour RostamiShahram SavadIran University of Medical Sciencesarticleallan-herndon-dudley syndrome (ahds)slc16a2whole-exome sequencingNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENBasic and Clinical Neuroscience, Vol 12, Iss 4, Pp 563-568 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	allan-herndon-dudley syndrome (ahds) slc16a2 whole-exome sequencing Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	allan-herndon-dudley syndrome (ahds) slc16a2 whole-exome sequencing Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Shahab Noorian Sepideh Hamzehlou Ali Rabbani Arya Sotoudeh Kioumars Pour Rostami Shahram Savad The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
description	Introduction: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic variations in the levels of thyroid hormones in AHDS patients, we believe that the disorder is often underdiagnosed. Here, we reported a 3.5-year-old boy with an AHDS diagnosis and healthy thyroid hormones. Methods: Whole-Exome sequencing followed by data analysis was performed on the patient’s sample. The mutation was confirmed by Sanger sequencing in the patient and his mother. Results: We reported a 3.5-year-old boy with AHDS diagnosis and a novel synonymous missense mutation (c. 1026G>A) in the SLC16A2 gene manifesting normal levels of T3, T4, and TSH. The mutation causes no change in amino acid sequence; however, it affects splicing through alteration of an exonic splicing enhancer. To the best of our knowledge, there are only 3 similar reports in the literature reporting AHDS diagnosis and normal levels of thyroid hormones. Conclusion: The altered levels of thyroid hormones are notable but not necessary markers for diagnosing AHDS. The candidate diagnosis of AHDS should be considered in patients with X-linked recessive intellectual disability syndrome with neuromuscular involvements irrespective of levels of thyroid hormones; otherwise, it could lead to the under-diagnosis of the disorder.
format	article
author	Shahab Noorian Sepideh Hamzehlou Ali Rabbani Arya Sotoudeh Kioumars Pour Rostami Shahram Savad
author_facet	Shahab Noorian Sepideh Hamzehlou Ali Rabbani Arya Sotoudeh Kioumars Pour Rostami Shahram Savad
author_sort	Shahab Noorian
title	The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
title_short	The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
title_full	The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
title_fullStr	The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
title_full_unstemmed	The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
title_sort	role of thyroid function tests in diagnosing allan-herndon-dudley syndrome revisited: a novel iran-based mutation
publisher	Iran University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/fb63f76045ee4c94861c790665d6b0e4
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The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation

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