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The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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The Korean Academy of Medical Sciences
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012841/ https://www.ncbi.nlm.nih.gov/pubmed/21218045 http://dx.doi.org/10.3346/jkms.2011.26.1.146 |
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author | Yun, Ki Wook Chae, Soo Ahn Lee, Jung Ju Yun, Sin Weon Yoo, Byoung Hoon Lim, In Seok Choi, Eung Sang Lee, Mi-Kyung |
author_facet | Yun, Ki Wook Chae, Soo Ahn Lee, Jung Ju Yun, Sin Weon Yoo, Byoung Hoon Lim, In Seok Choi, Eung Sang Lee, Mi-Kyung |
author_sort | Yun, Ki Wook |
collection | PubMed |
description | Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers. |
format | Text |
id | pubmed-3012841 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-30128412011-01-08 The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea Yun, Ki Wook Chae, Soo Ahn Lee, Jung Ju Yun, Sin Weon Yoo, Byoung Hoon Lim, In Seok Choi, Eung Sang Lee, Mi-Kyung J Korean Med Sci Case Report Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers. The Korean Academy of Medical Sciences 2011-01 2010-12-22 /pmc/articles/PMC3012841/ /pubmed/21218045 http://dx.doi.org/10.3346/jkms.2011.26.1.146 Text en © 2011 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 | Case Report Yun, Ki Wook Chae, Soo Ahn Lee, Jung Ju Yun, Sin Weon Yoo, Byoung Hoon Lim, In Seok Choi, Eung Sang Lee, Mi-Kyung The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea |
title | The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea |
title_full | The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea |
title_fullStr | The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea |
title_full_unstemmed | The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea |
title_short | The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea |
title_sort | first case of x-linked alpha-thalassemia/mental retardation (atr-x) syndrome in korea |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012841/ https://www.ncbi.nlm.nih.gov/pubmed/21218045 http://dx.doi.org/10.3346/jkms.2011.26.1.146 |
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