Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

Joint Authors

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

Source

Case Reports in Medicine

Issue

Vol. 2010, Issue 2010 (31 Dec. 2010), pp.1-5, 5 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2010-12-15

Country of Publication

Egypt

No. of Pages

5

Main Subjects

Medicine

Abstract EN

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.

American Psychological Association (APA)

Tanabe, Fuminori& Kasai, Hirotake& Morimoto, Michiko& Oh, Shigeharu& Takada, Hidetoshi& Hara, Toshiro…[et al.]. 2010. Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome. Case Reports in Medicine،Vol. 2010, no. 2010, pp.1-5.
https://search.emarefa.net/detail/BIM-473665

Modern Language Association (MLA)

Tanabe, Fuminori…[et al.]. Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome. Case Reports in Medicine No. 2010 (2010), pp.1-5.
https://search.emarefa.net/detail/BIM-473665

American Medical Association (AMA)

Tanabe, Fuminori& Kasai, Hirotake& Morimoto, Michiko& Oh, Shigeharu& Takada, Hidetoshi& Hara, Toshiro…[et al.]. Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome. Case Reports in Medicine. 2010. Vol. 2010, no. 2010, pp.1-5.
https://search.emarefa.net/detail/BIM-473665

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-473665