R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts andleukoencephalopathy (CADASIL) is a rare hereditary stroke caused by mutations in NOTCH3 gene.We report the first case of CADASIL in an indigenous Rungus(Kadazan-Dusun) family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C&g...
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my.ums.eprints.214182020-12-09T03:32:39Z https://eprints.ums.edu.my/id/eprint/21418/ R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL Lim, Kheng Seang Ai-HueyTan Lim, Chun Shen Chua, Kek Heng Lee, Ping Chin Norlisah Ramli Giri Shan Rajahram Fatimah Tina Hussin Kum, Thong Wong Meenakshi Bhattacharjee Ng, Ching Ching QH Natural history Cerebral autosomal dominant arteriopathy with subcortical infarcts andleukoencephalopathy (CADASIL) is a rare hereditary stroke caused by mutations in NOTCH3 gene.We report the first case of CADASIL in an indigenous Rungus(Kadazan-Dusun) family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C>T,p.Arg54Cys) mutation in the NOTCH3. This mutation was previously reported in a Caucasian and two Korean cases of CADASIL. We recruited two generations of the affected Rungus family (n=9) and found a missense mutation (c.160C>T) in exon 2 of NOTCH3 in three siblings.Two of the three siblings had severe white matter abnormalities in their brain MRI (Scheltensscore33and50respectively),one of whom had a young stroke at the age of 38 .The remaining sibling ,however, did not show any clinical features of CADASIL and had only minimal changes in her brain MRI (Scheltensscore 17).This further emphasized the phenotype variability among family members with the same mutation in CADASIL.This is the first reported family with CADASIL in Rungus subtribe o fKadazan-Dusun ethnicity with a known mutation at exon 2 of NOTCH3.The penetrance of this mutation was not complete during the course of this study Public Library Science 2015 Article PeerReviewed text en https://eprints.ums.edu.my/id/eprint/21418/1/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf text en https://eprints.ums.edu.my/id/eprint/21418/7/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf Lim, Kheng Seang and Ai-HueyTan and Lim, Chun Shen and Chua, Kek Heng and Lee, Ping Chin and Norlisah Ramli and Giri Shan Rajahram and Fatimah Tina Hussin and Kum, Thong Wong and Meenakshi Bhattacharjee and Ng, Ching Ching (2015) R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL. PLoS ONE, 13 (10). pp. 1-10. ISSN 1932-6203 https://www.doi.org/10.1371/journal.pone.013547 |
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QH Natural history Lim, Kheng Seang Ai-HueyTan Lim, Chun Shen Chua, Kek Heng Lee, Ping Chin Norlisah Ramli Giri Shan Rajahram Fatimah Tina Hussin Kum, Thong Wong Meenakshi Bhattacharjee Ng, Ching Ching R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL |
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Cerebral autosomal dominant arteriopathy with subcortical infarcts andleukoencephalopathy (CADASIL) is a rare hereditary stroke caused by mutations in NOTCH3 gene.We report the first case of CADASIL in an indigenous Rungus(Kadazan-Dusun) family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C>T,p.Arg54Cys) mutation in the NOTCH3. This mutation was previously reported in a Caucasian and two Korean cases of CADASIL. We recruited two generations of the affected Rungus family (n=9) and found a missense mutation (c.160C>T) in exon 2 of NOTCH3 in three siblings.Two of the three siblings had severe white matter abnormalities in their brain MRI (Scheltensscore33and50respectively),one of whom had a young stroke at the age of 38 .The remaining sibling ,however, did not show any clinical features of CADASIL and had only minimal changes in her brain MRI (Scheltensscore 17).This further emphasized the phenotype variability among family members with the same mutation in CADASIL.This is the first reported family with CADASIL in Rungus subtribe o fKadazan-Dusun ethnicity with a known mutation at exon 2 of NOTCH3.The penetrance of this mutation was not complete during the course of this study |
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Article |
author |
Lim, Kheng Seang Ai-HueyTan Lim, Chun Shen Chua, Kek Heng Lee, Ping Chin Norlisah Ramli Giri Shan Rajahram Fatimah Tina Hussin Kum, Thong Wong Meenakshi Bhattacharjee Ng, Ching Ching |
author_facet |
Lim, Kheng Seang Ai-HueyTan Lim, Chun Shen Chua, Kek Heng Lee, Ping Chin Norlisah Ramli Giri Shan Rajahram Fatimah Tina Hussin Kum, Thong Wong Meenakshi Bhattacharjee Ng, Ching Ching |
author_sort |
Lim, Kheng Seang |
title |
R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL |
title_short |
R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL |
title_full |
R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL |
title_fullStr |
R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL |
title_full_unstemmed |
R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL |
title_sort |
r54c mutation of notch3 gene in the first rungus family with cadasil |
publisher |
Public Library Science |
publishDate |
2015 |
url |
https://eprints.ums.edu.my/id/eprint/21418/1/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf https://eprints.ums.edu.my/id/eprint/21418/7/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf https://eprints.ums.edu.my/id/eprint/21418/ https://www.doi.org/10.1371/journal.pone.013547 |
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1760229840569499648 |
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13.160551 |