Gene: [06q1/OA3] albinism, ocular, type 3 (autosomal recessive); [AOR ]
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COM |
The identification of mutations in the P gene (GEM:15q1/OCA2) in cases of autosomal recessive ocular albinism (Lee-1994) make the location of the gene for this form of albinism on Chr 6 less likely but not impossible.[GEM:06q1/OA3:MUT]" |
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MUT |
In a 7-year-old girl of northern European ancestry thought to have the autosomal recessive form of ocular albinism, Lee et al. (Lee-1994) found a G-to-T mutation in the first nucleotide of the donor splice junction if IVS17 of the P gene (GEM:15q1/OCA2) and, on the other chromosome, an ala481-to-thr mutation." |
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CAG |
Rose-1992 reported autosomal recessive ocular albinism in a male with deletion of the 6q13-q15. Lee-1994 found a G-to-T mutation in the P gene (GEM:15q1/OCA2) in a girl thought to have the autosomal recessive form of ocular albinism." |
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REF |
MUT,LOC "Lee S-T &: New Engl J Med, 330, N8, 529-534, 1994b LOC,MUT "Rose NC &: Am J Med Genet, 42, 700-705, 1992 |
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KEY |
eye |
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CLA |
unknown, basic |
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LOC |
06 q13-15 |
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MIM |
MIM: 203310 |
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SYN |
AOR |
