Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi SyndromeReport as inadecuate




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Case Reports in MedicineVolume 2010 2010, Article ID 464671, 5 pages

Case Report

Department of Human Science, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan

Department of Microbiology, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan

College of Nursing Art and Science, University of Hyogo, Akashi, Hyogo 673-8588, Japan

Shizuoka Children-s Hospital, Shizuoka 420-8660, Japan

Department of Pediatrics, Graduate School of Medical Science, Fukuoka 812-8582, Japan

Received 2 October 2010; Accepted 11 November 2010

Academic Editor: Marie-Cécile Nassogne

Copyright © 2010 Fuminori Tanabe et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.





Author: Fuminori Tanabe, Hirotake Kasai, Michiko Morimoto, Shigeharu Oh, Hidetoshi Takada, Toshiro Hara, and Masahiko Ito

Source: https://www.hindawi.com/



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