SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

Toshiyuki Yamamoto; Keiko Shimojima; Ayako Umemura; Mitsugu Uematsu; Tojo Nakayama; Ken Inoue

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SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

机译：两名日本Allan–Herndon–Dudley综合征患者的 SLC16A2 突变

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Allan–Herndon–Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A150V) SLC16A2 mutation in Japanese AHDS patients from two different families. A150V co-segregated with S33P. Both patients showed similar clinical features including severe neurological features and delayed myelination. Thyroid function showed a common finding of elevated T3 levels. No clear genotype–phenotype correlation was observed in patients with SLC16A2 alterations.

机译：艾伦-汉顿-杜德利综合症（AHDS）是一种神经发育障碍，表现为智力残疾和运动发育迟缓。 SLC16A2突变引起的甲状腺激素转运蛋白功能异常是该疾病的根本原因。我们在来自两个不同家庭的日本AHDS患者中鉴定了一种新型（P537del）和复发性（A150V）SLC16A2突变。 A150V与S33P共同隔离。两名患者均表现出相似的临床特征，包括严重的神经系统特征和髓鞘延迟。甲状腺功能显示出T3水平升高的常见发现。 SLC16A2改变的患者未观察到明确的基因型与表型相关性。

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《Human genome variation.》 |2014年第3期|共页
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Toshiyuki Yamamoto; Keiko Shimojima; Ayako Umemura; Mitsugu Uematsu; Tojo Nakayama; Ken Inoue;
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中图分类医学遗传学;
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1. A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome [J] . Sayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, Clinical Pediatric Endocrinology . 2013,第4期

机译：26岁的日本人Allan-Herndon-Dudley综合征的SLC16A2编码单羧酸转运蛋白（MCT）8的新型删除突变。
2. Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome [J] . Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Congenital anomalies . 2018,第4期

机译：Allan-Herndon-Dudley综合征患者SLC16A2中的新型A178P突变
3. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome [J] . Novara Francesca, Groeneweg Stefan, Freri Elena, Human mutation . 2017,第3期

机译：三个家庭与Allan-Herndon-Dudley综合征三个家庭SLC16A2（MCT8）突变的临床和分子特征
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

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6. SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome [O] . Toshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, 2014

机译：两名日本Allan–Herndon–Dudley综合征患者的SLC16A2突变
7. Correction: Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome [O] . 2017

机译：校正：艾伦 - 海洋达德利综合征患者的新型 SLC16A2

SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

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