Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17).
Karyotypic analysis of a patient exhibiting a phenotype of isolated lissencephaly, and of her parents, revealed a de novo balanced translocation, t(8;17)(p11.2; p13.3). Since the lissencephaly (LIS1) gene was known to be located on 17p13.3, we investigated whether the translocation might involve this gene. We performed Southern analysis using cosmid clones that contained genomic sequences corresponding to LIS1, and found that the breakpoint was located within intron 1. As sequence analysis of the parental chromosomes in the vicinity of the breakpoint identified no additional putative transcripts, haploinsufficiency of the LIS1 gene is likely to be solely responsible for the patient's lissencephaly. Characterization of both breakpoints indicated a possible involvement of repetitive sequences in the recombigenic process that led to the translocation.
Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Suita, Japan. kura@clgene.med.osaka-u.ac.jp
H
H
Kurahashi
M
M
Sakamoto
J
J
Ono
A
A
Honda
S
S
Okada
Y
Y
Nakamura
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D001483:Base Sequence; D002540:Cerebral Cortex / Q000002:abnormalities*; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D018076:DNA, Complementary; D006801:Humans; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D014178:Translocation, Genetic
D018076:DNA, Complementary; D008869:Microtubule-Associated Proteins; D011506:Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human