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A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. M...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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The Korean Academy of Medical Sciences
2005
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782167/ https://www.ncbi.nlm.nih.gov/pubmed/16100463 http://dx.doi.org/10.3346/jkms.2005.20.4.670 |
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author | Kim, Myeong-Kyu Park, Man-Seok Kim, Byeong-Chae Cho, Ki-Hyun Kim, Young-Seon Kim, Jin-Hee Lee, Min-Cheol Heo, Tag Kim, Eun-Young |
author_facet | Kim, Myeong-Kyu Park, Man-Seok Kim, Byeong-Chae Cho, Ki-Hyun Kim, Young-Seon Kim, Jin-Hee Lee, Min-Cheol Heo, Tag Kim, Eun-Young |
author_sort | Kim, Myeong-Kyu |
collection | PubMed |
description | The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mutations identified to date are located in two evolutionarily conserved domains. We performed mutation analysis of DCX in two Korean patients with SBH. The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. The sequence variation results in a serine to leucine amino acid change at position 129 (S129L), which has not been found in other family members of Patient 1 or in a large panel of 120 control X-chromosomes. We report here a novel c.386 C>T mutation of DCX that is responsible for SBH. |
format | Text |
id | pubmed-2782167 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2005 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-27821672009-11-25 A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia Kim, Myeong-Kyu Park, Man-Seok Kim, Byeong-Chae Cho, Ki-Hyun Kim, Young-Seon Kim, Jin-Hee Lee, Min-Cheol Heo, Tag Kim, Eun-Young J Korean Med Sci Original Article The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mutations identified to date are located in two evolutionarily conserved domains. We performed mutation analysis of DCX in two Korean patients with SBH. The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. The sequence variation results in a serine to leucine amino acid change at position 129 (S129L), which has not been found in other family members of Patient 1 or in a large panel of 120 control X-chromosomes. We report here a novel c.386 C>T mutation of DCX that is responsible for SBH. The Korean Academy of Medical Sciences 2005-08 2005-08-31 /pmc/articles/PMC2782167/ /pubmed/16100463 http://dx.doi.org/10.3346/jkms.2005.20.4.670 Text en Copyright © 2005 The Korean Academy of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Kim, Myeong-Kyu Park, Man-Seok Kim, Byeong-Chae Cho, Ki-Hyun Kim, Young-Seon Kim, Jin-Hee Lee, Min-Cheol Heo, Tag Kim, Eun-Young A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia |
title | A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia |
title_full | A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia |
title_fullStr | A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia |
title_full_unstemmed | A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia |
title_short | A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia |
title_sort | novel missense mutation of doublecortin: mutation analysis of korean patients with subcortical band heterotopia |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782167/ https://www.ncbi.nlm.nih.gov/pubmed/16100463 http://dx.doi.org/10.3346/jkms.2005.20.4.670 |
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