Novel <i>SLC16A2</i> mutations in patients with Allan-Herndon-Dudley syndrome-Reference-Cited by-同舟云学术

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Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome

Published:2016 Issue:3 Volume:5 Page:214-217
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Shimojima Keiko¹,Maruyama Koichi²,Kikuchi Masahiro³,Imai Ayako³,Inoue Ken⁴,Yamamoto Toshiyuki¹

Affiliation:

1. Tokyo Women's Medical University Institute for Integrated Medical Sciences

2. Department of Pediatrics, Central Hospital, Aichi Human Service Center

3. Department of Pediatrics, Hitachi General Hospital

4. National Institute of Neuroscience, National Center for Neurology and Psychiatry

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/5/3/5_2016.01051/_pdf

Reference10 articles.

1. 1. Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet. 2005; 77:41-53.

2. 2. Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol. 2013; 28:795-800.

3. 3. Matheus MG, Lehman RK, Bonilha L, Holden KR. Redefining the pediatric phenotype of X-linked monocarboxylate transporter 8 (MCT8) deficiency: Implications for diagnosis and therapies. J Child Neurol. 2015; 30:1664-1668.

4. 4. Boccone L, Dessi V, Meloni A, Loudianos G. Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels. Eur J Med Genet. 2013; 56:207-210.

5. 5. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004; 74:168-175.

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3. Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan;Frontiers in Neurology;2021-07-15

4. The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation;Basic and Clinical Neuroscience Journal;2021-07-01

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