Mutations of the Chediak-Higashi Syndrome gene Associated with CHS

Mutations of the Chediak-Higashi Syndrome gene associated with CHS.

Go to this link for a map of mutations of the Chediak-Higashi Syndrome gene associated with CHS.

The Albinism Database is part of the International Albinism Center at the University of Minnesota.

Chediak-Higashi Syndrome mutations associated with CHS

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Population	OMIM Reference	Reference
118insG	Insertion of G at 118	Frameshift	-	?	.0003	Barbosa et al., 1996 Barbosa et al., 1997
R50X	C -> T at 148	Arg - Stop at 50	-	?	.0006	Barbosa et al., 1997
1467delG	Deletion of G at 1467	Frameshift	-	Caucasian	.0001	Nagle et al., 1996
1902insA	Insertion of A after 1902	Frameshift	-	Kuwaiti Bedouin	.0004	Karim et al., 1997
2623delT	Deletion of T at 2623	Frameshift			.0008	Dufourcq-Lagelouse et al., 1999 Certain et al., 2000
3073delAA	Deletion of AA at 3073	Frameshift	-	?		Barbosa et al., 1997
Q1029X	C -> T at 3085	Gln - Stop at 1029	-	?	.0007	Barbosa et al., 1997
R1104X	C -> T at 3310	Arg - Stop at 1104	-	Caucasian	.0002	Nagle et al., 1996 Certain et al., 2000
5317delA	Deletion of A at 5317	Frameshift				Certain et al., 2000
7060del7bp	Deletion of 7bp from 7060-7066	Frameshift				Certain et al., 2000
7555delT	Deletion of T at 7555	Frameshift				Certain et al., 2000
9106del56bp	Deletion of 56bp from 9106 to 9161	Frameshift				Certain et al., 2000
9228ins10bp	Insertion of 10bp at 9228	Frameshift				Certain et al., 2000
9590delA	Deletion of A at 9590	Frameshift	-	Turkish	.0005	Karim et al., 1997 Certain et al., 2000
Reduced mRNA	?	Reduced 13.5 kb mRNA	-	?		Barbosa et al., 1997

Nucleotide 1 begins at the first nucleotide of codon 1

References

Barbosa, M. D. F. S., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. E., Lovett, M., Kingsmore, S. F. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382:262-265, 1996. [Link to article (PubMed)]

Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. F., de Saint Basile, G., Kingsmore, S. F. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Human Molecular Genetics 6:1091-1098, 1997. [Link to article (PubMed)]

Certain, S., Barrat, F., Pastural, E., LeDeist, F., Goyo-Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer, E., Beullier, G., Schwarz, K., Fisher, A., de Saint Basile, G. Protein truncation test of LYST reveals heterogenous mutaitons in patients with Chediak-Higashi syndrome. Blood 95:979-983, 2000. [Link to article (PubMed)]

Dufourcq-Lagelouse, R., LAmbert, N., Ducal, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. European Journal of Human Genetics 7:633-637, 1999. [Link to artiticle (PubMed)]

Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Human Molecular Genetics 6:1087-1089,1997. [Link to article (PubMed)]

Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. nature genetics 14:307-311, 1996. [Link to article (PubMed)]

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Last changed October 29, 2001.