2014年8月
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Brain and Development
- 巻
- 36
- 号
- 7
- 開始ページ
- 630
- 終了ページ
- 633
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.braindev.2013.08.004
- 出版者・発行元
- Elsevier {BV}
Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual disabilities in Europe or America after Fragile X syndrome, information on the morbidity of this disease is limited in Japan. Using the HPLC screening method we have established recently, we examined samples of urine of 105 patients (73 males and 32 females) with developmental disabilities at our medical center. And we have found a family with three ID boys with a novel missense mutation in SLC6A8. This is the second report of a Japanese family case of CTD. A systematic diagnostic system of this syndrome should be established in Japan to enable us to estimate its frequency and treatment.
- リンク情報
- ID情報
-
- DOI : 10.1016/j.braindev.2013.08.004
- ISSN : 0387-7604
- ORCIDのPut Code : 70889690
- PubMed ID : 24045174