Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patie...
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2010/464671 |
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| author | Fuminori Tanabe Hirotake Kasai Michiko Morimoto Shigeharu Oh Hidetoshi Takada Toshiro Hara Masahiko Ito |
| author_facet | Fuminori Tanabe Hirotake Kasai Michiko Morimoto Shigeharu Oh Hidetoshi Takada Toshiro Hara Masahiko Ito |
| author_sort | Fuminori Tanabe |
| collection | DOAJ |
| description | Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. The CHS1 mutations described here have not been reported previously. |
| format | Article |
| id | doaj-art-bd636edadb7740828f6189006b2e3b06 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-bd636edadb7740828f6189006b2e3b062025-02-03T07:24:10ZengWileyCase Reports in Medicine1687-96271687-96352010-01-01201010.1155/2010/464671464671Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi SyndromeFuminori Tanabe0Hirotake Kasai1Michiko Morimoto2Shigeharu Oh3Hidetoshi Takada4Toshiro Hara5Masahiko Ito6Department of Human Science, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, JapanDepartment of Microbiology, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, JapanCollege of Nursing Art and Science, University of Hyogo, Akashi, Hyogo 673-8588, JapanShizuoka Children’s Hospital, Shizuoka 420-8660, JapanDepartment of Pediatrics, Graduate School of Medical Science, Fukuoka 812-8582, JapanDepartment of Pediatrics, Graduate School of Medical Science, Fukuoka 812-8582, JapanDepartment of Microbiology, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, JapanChediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. The CHS1 mutations described here have not been reported previously.http://dx.doi.org/10.1155/2010/464671 |
| spellingShingle | Fuminori Tanabe Hirotake Kasai Michiko Morimoto Shigeharu Oh Hidetoshi Takada Toshiro Hara Masahiko Ito Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome Case Reports in Medicine |
| title | Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome |
| title_full | Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome |
| title_fullStr | Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome |
| title_full_unstemmed | Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome |
| title_short | Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome |
| title_sort | novel heterogenous chs1 mutations identified in five japanese patients with chediak higashi syndrome |
| url | http://dx.doi.org/10.1155/2010/464671 |
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