Mutations of the Ocular Albinism-1 gene Associated with Ocular Albinism

Mutations of the OA1 gene associated with Ocular Albinism (OA1).

Deletions of the OA1 gene associated with Ocular Albinism (OA1).

Polymorphisms of the OA1 gene.

Go to this link for a map of mutations of the OA1 gene associated with Ocular Albinism (OA1).

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

OA1 mutations associated with Ocular Albinism (OA1)

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Population	OMIM Reference	Reference
R5C	c.13C>T	p.Arg5Cys	EX1	Netherlands		Bassi et al., 2001
G35D	c.104G>A	p.Gly35Asp	EX1	Netherlands	.0008	Schiaffino et al., 1995 Rosenberg and Schwartz, 1998
L39R	c.116T>G	p.Leu39Arg	EX1	Danish		Rosenberg and Schwartz, 1998
151del7	Deletion of 7 bp at 151	Frameshift	EX1	France		Bassi et al., 2001
165del29	Deletion of 29 bp at 165	Frameshift	EX1	Germany		Rudolph et al., 2001
175delT	Deletion of T at 175	Frameshift	EX1	Netherlands		Bassi et al., 2001
180insC	Insertion of C at 180	Frameshift	EX1	United States		Bassi et al., 2001
215del17	Deletion of 17 bp at 215	Frameshift	EX1	Australian	.0002	Schiaffino et al., 1995 Schnur et al., 1998
D78N	G -> A at 232	Asp -> Asn at 78	EX1	Italy		Bassi et al., 2001
D78V	A -> T at 233	Asp -> Val at 78	EX1	Danish		Rosenberg and Schwartz, 1998
G84R	G -> C at 250	Gly -> Arg at 84	EX1			Schnur et al., 1998
IVS1-1G->C	G ->C at 250-1	Splice mutation	IVS1	Caucasian		Schnur et al., 1998
G84D	G -> A at 251	Gly -> Asp at 84	EX2	Netherlands		Schiaffino et al., 1995
310delG	Deletion of G at 310	Frameshift	EX2	Southern France		Faugere et al. (2001)
C116R	T -> C at 346	Cys -> Arg at 116	EX2			Schnur et al., 1998
C116S	G -> C at 347	Cys -> Ser at 116	EX2	South Africa		Bassi et al., 2001
G118E	G -> A at 353	Gly -> Glu at 118	EX2	Caucasian Netherlands		Schnur et al., 1998 Bassi et al., 2001
360G/A	G -> A at 360	No change Ala120 Splice mutation?	EX2	Danish		Rosenberg and Schwartz, 1998
IVS2+5G->C	G -> C at 360+5	Splice mutation	IVS2	United Kingdom		Schiaffino et al., 1995
Q124R	A -> G at 371	Gln -> Arg at 124	EX3	United States		Bassi et al., 2001
W133R	T -> A at 397	Trp -> Arg at 133	EX3	Danish	.0006	Rosenberg and Schwartz, 1998
W133R	T -> C at 397	Trp -> Arg at 133	EX3	Caucasian	.0003	Schnur et al., 1998
402delG	Deletion of G at 402	Frameshift	EX3			Schnur et al., 1998
A138V	C -> T at 413	Ala -> Val at 138	EX3	African American		Schnur et al., 1998
445ins7	Insertion of 7 bp after 445	Frameshift	EX3	United States		Schiaffino et al., 1995
S152N	G -> A at 455	Ser -> Asn at 152 Splice mutation	EX3		.0004	Schnur et al., 1998
IVS3+1G->C	G -> C at 455+1	Splice mutation	IVS3	Belgium		Bassi et al., 2001
A173D	G -> A at 518	Ala -> Asp at 173	EX4	United Kingdom		Schiaffino et al., 1995
677delG	Deletion of G at 677	Frameshift	EX6	Netherlands		Bassi et al., 2001
G229V	G -> T at 686	Gly -> Val at 229	EX6	Germany		Bassi et al., 2001
T232K	C -> A at 695	Thr -> Lys at 232	EX6		.0005	Schnur et al., 1998
E233K	G -> A at 703	Glu -> Lys at 233	EX6	Danish		Rosenberg and Schwartz, 1998
E235K	G -> C at 703	Glu -> Lys at 235	EX6			Schnur et al., 1998
I244V	A -> G at 730	Ile -> Val at 244	EX6	United States		Bassi et al., 2001
R245X	C -> T at 733	Arg -> Ter at 245	EX6	Australian United Kingdom Canada		Schnur et al., 1998 Bassi et al., 2001
I261N	T -> A at 782	Ile -> Asn at 261	EX7	Germany		Bassi et al., 2001
E271G	A -> G at 812	Glu -> Gly at 271	EX7	Netherlands		Bassi et al., 2001
T290del	Deletion of 3 bp from 868 and 870	Deletion of Thr at 290	EX7	United Kingdom		Schiaffino et al., 1995
W292G	T -> G at 874	Trp -> Gly at 292	EX7	United Kingdom		Schiaffino et al., 1995
W292C	G -> T at 876	Trp -> Cys at 292	EX7	United States		Bassi et al., 2001
W292X	G -> A at 876	Trp -> Ter at 292	EX7	Germany		Bassi et al., 2001
IVS7+1G->A	G -> A at 885+1	Splice mutation	IVS7	South Africa		Bassi et al., 2001
932insCG	Insertion of CG after 932	Frameshift	EX8	Netherlands	.0001	Bassi et al., 1995 Schiaffino et al., 1995

*Nucleotide 1 begins at the first nucleotide of codon 1

OA1 gene deletions associated with Ocular Albinism (OA1)

Name	Nucleotide Change*	Exon	Population	OMIM Reference	Reference
Deletion of exon 1	-	1	Caucasian		Schnur et al., 1998
Deletion of exon 1 / Insertion of TCATGT	5000 bp deletion with insertion of TCATGT	1	Caucasian		Schnur et al., 1998
Deletion of exon 1	4800 bp deletion	1	Canada		Bassi et al., 2001
Deletion of exons 1-8	-	1-8	United States		Burns et al., 1998
Deletion of exons 1-9	700 kb deletion	1-9	?		Tijmes et al., 1998
Deletion of Exons 1-9 and Other contiguous genes	-	1-9+			Schaefer et al., 1993 Schnur et al., 1998 Bassi et al., 1999
Deletion of exon 2	-	2	Danish Caucasian	.0007	Rosenberg and Schwartz, 1998 Schnur et al., 1998
Deletion of exon 2	218 bp deletion	2	Canada		Bassi et al., 1995
Deletion of exon 2	900 bp deletion	2	United States		Bassi et al., 1995
Deletion of exon 2	1000 bp deletion	2	Canada		Bassi et al., 1995
Deletion of exon 2	3100 bp deletion	2	Netherlands		Bassi et al., 1995
Deletion of exons 2-8	-	2-8	Caucasian		Schiaffino et al., 1995 Lam et al., 1997 Schnur et al., 1998 Bassi et al., 2001
Deletion of exon 3	1172 bp deletion	3	United States		Bassi et al., 2001
Deletion of exon 4	-	4	United States		Schnur et al., 1994 Schnur et al., 1998
Deletion of exon 4-5	-	4-5	United Kingdom		Bassi et al., 2001
Deletion of exons 4-8	10 kb deletion	4 - 8	Germany		Bassi et al., 1995 Schiaffino et al., 1995
Deletion of exon 6		6	Southern France		Faugere et al. (2001)
Deletion of exons 7-8		7-8	Southern France		Faugere et al. (2001)

Polymorphisms of the OA1 gene

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Reference
1409C/T	C or T at 1409	None	3' UTR	Rosenberg and Schwartz, 1998
OA1-CA	CA-STRP	Polymorphic	IVS1	Schiaffino et al., 1995
360+13C/G	C or G at 360+13	None	IVS2	Rosenberg and Schwartz, 1998 Schnur et al., 1998

References

Bassi, M. T., Bergen, A. A. B., Bitoun, P., Charles, S. J., Clementi, M., Gosselin, R., Hurst, J., Lewis, R. A., Lorenz, B., Meitinger, T., Messiaen, L., Ramesar, R. S., Ballabio, A., Schiaffino, M.V. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Human Genetics 108:51-53, 2001. [Link to article (PubMed)]

Bassi, M. T., Ramesar, R. S., Caciotti, B., Winship. I. M., De Grandi, A., Riboni, M., Townes, P. L., Beighton, P., Ballabio, A., Borsani, G. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. American Journal of Human Genetics 64:1604-1616, 1999. [Link to article (PubMed)]

Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L. Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A. Ballabio, A. Cloning of the gene for ocular albinism type I from the distal short arm of he X chromosome. Nature Genetics 10:13-19, 1995. [Link to article (PubMed)]

Burns, W. N., Schiaffino, M. V., Lewis, R.A. Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. Fertility and Sterility 70:1169-1172, 1998. [Link to article (PubMed)]

Faugere, V., Tuffery, S., Claustres, M. IURC, Montpellier, France, 2001. [Unpublished mutations]

Lam, B. L., Figert, J. H., Shutt, B. C., Singleton, E. M., Merin, L. M., Brown, H. H., Sheffield, V. C., Stone, E. M. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). Ophthalmic Genetics 18:175-184, 1997. [Link to article (PubMed)]

Rosenberg, T., Schwartz, M. X-linked ocular albinism: prevalence and mutations - a national study. European Journal of Human Genetics 6:570-577, 1998. [Link to article (PubMed)]

Rudolph, G., Meindl, A., Bechmann, M., Schworm, H. D., Achatz, H., Boergen, K. P., Kampik, A., Berninger, T., Meitinger, T. X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. Graefes Archives in Clinical and Experimental Ophthalmology 239:167-72, 2001. [Link to article (PubMed)]

Schaefer, L., Ferrero, G. B., Grillo, A., Bassi, M. T., Roth, E. J., Wapenaar, M. C., van Omen, G. J. B. A high resolution deletion map of human chromosome Xp22. Nature Genetics 4:272-279, 1993.[Link to article (PubMed)]

Schiaffino, M. V., Bassi, M. T., Balli, L., Renieri, A., Bruttini, M., De Nigris, F., Bergen, A. A. B., Charles, S. J., Yates, J. R. W., Meindl, A., Lewis, R. A., King, R. A., Ballabio, A. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Human Molecular Genetics 4: 2319-2325, 1995. [Link to article (PubMed)]

Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M.J. Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. American Journal of Human Genetics 55:484-96, 1994. [Link to article (PubMed)]

Schnur, R. E., Gao, M., Wick, P. A., Keller, M., Benke, P. J., Edwards, M. J., Grix, A. W., Hockey, A., Jung, J. H., Kidd, K. K., Kistenmacher, M., Levin, A. V., Lewis, R. A., Musarella, M. A., Nowakowski, R. W., Orlow, S. J., Pagon, R. S., Pillers, D-A. M., Punnett, H. H., Quinn, G. E., Tezcan, K., Wagstaff, J., Weleber, R. G. OA1 mutations and deletions in X-linked ocular albinism. American Journal of Human Genetics 62:800-809, 1998. [Link to article (PubMed)]

Tijmes, N. T., Bergen, A. A. B., De Jong, P. T. V. M. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. British Journal of Ophthalmology 82:457-458, 1998. [Link to article (PubMed)]

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Last changed October 29, 2001.