Albinism, oculocutaneous, type 1B
| Disorder | |
|---|---|
| OMIM #: | #606952 (Click to access OMIM database) |
| Disorder: | Albinism, oculocutaneous, type 1B |
| Also known as: | Albinism, yellow mutant type Yellow albinism |
| Clinical | |
| Phenotype: | completely hypopigmented skin at birth with gradual skin colouration, yellow hair, ocular albinism, nystagmus, decreased visual acuity, foveal hypoplasia, unusual patterning or coloration of iris, hyperopia, myopia, astigmatism, strabismus |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| ReferencesNance WE, Jackson CE, Witkop CJ Jr. (1970) Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet 22:579-586. PubMed ID: 5516239 1 Amish |
|
| Gene: | TYR |
| Base Change: | C>T, at nucleotide 1217 |
| Amino Acid Change: | pro 406 --> leu |
| 2 Amish | |
| Gene: | TYR |
| Base Change: | T>G, at nucleotide 755 |
| Amino Acid Change: | met 252 --> arg |
| 3 Amish | |
| Gene: | TYR |
| Base Change: | c.[575C>A;1205G>A] |
| Amino Acid Change: | p.[Ser192Tyr;Arg402Gln] |
| Last updated: | 2022-11-01 |
| References |
|---|
| Giebel L, Tripathi R, Strunk K, Hanifin J, Jackson C, King R, Spritz A. (1991) Tyrosinase Gene Mutations Associated with Type 1B ("Yellow") Oculocutaneous Albinism. Am J Hum Genet Jun;48(6):1159-67. PubMed ID: 1903591 |
| Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. (2022) Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ Genom Med Jan 13;7(1):2. PubMed ID: 35027574 |
| Nance WE, Jackson CE, Witkop CJ Jr. (1970) Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet 22:579-586. PubMed ID: 5516239 |
| Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. (1992) Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet Jul 15;43(5):865-71. PubMed ID: 1642278 |
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