Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17) (original) (raw)

Abstract

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.

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Authors and Affiliations

  1. Division of Clinical Genetics, Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan e-mail: kura@clgene.med.osaka-u.ac.jp, Tel.: +81-6-879-3381, Fax: +81-6-879-3389, , , , , , JP
    H. Kurahashi, Michiko Sakamoto & Yusuke Nakamura
  2. Department of Pediatrics, Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, , , , , , JP
    Jiro Ono & Shintaro Okada
  3. Division of Pediatrics, Toyonaka City Hospital, 4-14-1 Shibahara-chou, Toyonaka, Osaka 560, Japan, , , , , , JP
    Atsuko Honda

Authors

  1. H. Kurahashi
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  2. Michiko Sakamoto
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  3. Jiro Ono
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  4. Atsuko Honda
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  5. Shintaro Okada
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  6. Yusuke Nakamura
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Received: 6 January 1998 / Accepted: 24 March 1998

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Kurahashi, H., Sakamoto, M., Ono, J. et al. Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17).Hum Genet 103, 189–192 (1998). https://doi.org/10.1007/s004390050805

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