Abstract
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 1b gene (PAFAH1B; also known as LIS1) located on 17p13.3. 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 PAFAH1B. 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 down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. Genomics, in press).
Highlights
Is a type of the congenital malformation of the brain
Patient descriptions and resulted data analyzed by microarray-based comparative genomic hybridization (CGH) analysis and fluorescence in-situ hybridization (FISH) analysis
Using microarray-based comparative genomic hybridization (CGH) analysis and fluorescence in-situ features hybridization (FISH) analysis, genomic copy number aberration was analyzed in a patient who exhibited lissencephaly
Summary
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. Patients with heterozygous deletion of this chromosomal region exhibit lissencephaly. We encountered a male patient who showed typical lissencephaly. We identified a 1.3 Mb submicroscopic deletion in 17p13.3. Both of the parents showed no deletion in this region. This was determined to be derived from de novo origin. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.
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