抄録
LIS1 is a genetic entity that is responsible for lissencephaly. Previously we have reported isolated lissencephaly sequence(ILS) in a Japanese patient carrying a balanced chromosomal translocation that disrupted the LIS1 gene. We examined mutations of LIS1 in 12 additional Japanese patients, 8 of them with ILS and 4 with Miller-Dieker syndrome (MDS). Fluorescence in situ hybridization (FISH) analysis disclosed deletions of part of the LIS1 gene or of the chromosomal region surrounding it in three of the ILS cases and in three of the MDS cases. In one of the remaining five ILS cases, SSCP analysis and subsequent sequence analysis identified a 1-bp deletion in exon IV, which can be expected to result in premature termination of the gene product. Our results indicate that in Japan, as elsewhere, abnormality of the LIS1 gene is a common cause of MDS/ILS.
| 元の言語 | English |
|---|---|
| ページ（範囲） | 586-589 |
| ページ数 | 4 |
| ジャーナル | Human Genetics |
| 巻 | 103 |
| 発行部数 | 5 |
| DOI | |
| 出版物ステータス | Published - 14-12-1998 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome. / Sakamoto, Michiko; Ono, Jiro; Okada, Shintaro; Masuno, Mitsuo; Nakamura, Yusuke; Kurahashi, Hiroki.
：: Human Genetics, 巻 103, 番号 5, 14.12.1998, p. 586-589.研究成果: Article
TY - JOUR
T1 - Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome
AU - Sakamoto, Michiko
AU - Ono, Jiro
AU - Okada, Shintaro
AU - Masuno, Mitsuo
AU - Nakamura, Yusuke
AU - Kurahashi, Hiroki
PY - 1998/12/14
Y1 - 1998/12/14
N2 - LIS1 is a genetic entity that is responsible for lissencephaly. Previously we have reported isolated lissencephaly sequence(ILS) in a Japanese patient carrying a balanced chromosomal translocation that disrupted the LIS1 gene. We examined mutations of LIS1 in 12 additional Japanese patients, 8 of them with ILS and 4 with Miller-Dieker syndrome (MDS). Fluorescence in situ hybridization (FISH) analysis disclosed deletions of part of the LIS1 gene or of the chromosomal region surrounding it in three of the ILS cases and in three of the MDS cases. In one of the remaining five ILS cases, SSCP analysis and subsequent sequence analysis identified a 1-bp deletion in exon IV, which can be expected to result in premature termination of the gene product. Our results indicate that in Japan, as elsewhere, abnormality of the LIS1 gene is a common cause of MDS/ILS.
AB - LIS1 is a genetic entity that is responsible for lissencephaly. Previously we have reported isolated lissencephaly sequence(ILS) in a Japanese patient carrying a balanced chromosomal translocation that disrupted the LIS1 gene. We examined mutations of LIS1 in 12 additional Japanese patients, 8 of them with ILS and 4 with Miller-Dieker syndrome (MDS). Fluorescence in situ hybridization (FISH) analysis disclosed deletions of part of the LIS1 gene or of the chromosomal region surrounding it in three of the ILS cases and in three of the MDS cases. In one of the remaining five ILS cases, SSCP analysis and subsequent sequence analysis identified a 1-bp deletion in exon IV, which can be expected to result in premature termination of the gene product. Our results indicate that in Japan, as elsewhere, abnormality of the LIS1 gene is a common cause of MDS/ILS.
UR - http://www.scopus.com/inward/record.url?scp=0031792942&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031792942&partnerID=8YFLogxK
U2 - 10.1007/s004390050873
DO - 10.1007/s004390050873
M3 - Article
C2 - 9860301
AN - SCOPUS:0031792942
VL - 103
SP - 586
EP - 589
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 5
ER -