Gene: [06q1/OA3] albinism, ocular, type 3 (autosomal recessive); [AOR ]

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]"

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."

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."

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

KEY

eye

CLA

unknown, basic

LOC

06 q13-15

MIM

MIM: 203310

SYN

AOR