Journal
DATA IN BRIEF
Volume 4, Issue -, Pages 488-491Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.dib.2015.07.017
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Funding
- Precursory Research for Embryonic Science and Technology (PRESTO) program in Japan Science and Technology Agency (JST), Kawaguchi, Japan
- Japan Society for the Promotion of Science (JSPS) [24791090]
- Japan Epilepsy Research Foundation (JERF)
- Kanae Foundation for the promotion of Medical Science in Japan
- Ministry of Health, Labor and Welfare, Japan [23110534]
- Mother and Child Health Foundation in Japan
- Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics
- Grants-in-Aid for Scientific Research [24791090] Funding Source: KAKEN
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Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase lb gene (PAFAH1B; also known as LIST) located on 17p133. Patients with heterozygous deletion of this chromosomal region exhibit lissencephaly. Recently, we encountered a male patient who showed typical lissencephaly. Using a microarray analysis, we identified a 1.3 Mb submicroscopic deletion in 17p13.3. This deletion included PAFAHIB. Both of the parents showed no deletion in this region. Therefore, this was determined to be derived from de novo origin. After obtaining the written informed consent, skin fibroblasts were provided from this patient and disease-specific induced pluripotent stem (iPS) cells were generated and used for medical research (Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, and Yamamoto T. CHCHD2 is clown-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. Genomics, in press). (C) 2015 The Authors. Published by Elsevier Inc.
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