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Basic and Clinical Neuroscience، جلد ۱۲، شماره ۴، صفحات ۵۶۳-۵۶۸
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation |
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| چکیده انگلیسی مقاله |
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. |
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| کلیدواژه‌های انگلیسی مقاله |
Allan-Herndon-Dudley Syndrome (AHDS), SLC16A2, Whole-exome sequencing |
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| نویسندگان مقاله |
| Shahab Noorian
Department of Pediatric Endocrinology and Metabolism, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran.
| Sepideh Hamzehlou
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
| Ali Rabbani
Growth and Development Research Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
| Arya Sotoudeh
Growth and Development Research Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
| Kioumars Pour Rostami
Department of Pediatric Endocrinology and Metabolism, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran.
| Shahram Savad
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
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| نشانی اینترنتی |
http://bcn.iums.ac.ir/browse.php?a_code=A-10-1924-1&slc_lang=en&sid=1 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Cellular and molecular Neuroscience |
| نوع مقاله منتشر شده |
News and Reports |
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