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| albinism [2016/01/26 20:52] – Scott Larson | albinism [2026/09/08 14:55] (current) – [Relative Frequency Estimates] Scott Larson | ||
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| * OCA4: MAPT gene mutation (SLC45A2) | * OCA4: MAPT gene mutation (SLC45A2) | ||
| * [[hermansky_pudlak_syndrome|Hermansky-Pudlak syndrome]]: mutation in any of HPS1 (10q23.1), HPS2 (5q13) , HPS3 (3q24), HPS4 (22q11.2-q12.2), | * [[hermansky_pudlak_syndrome|Hermansky-Pudlak syndrome]]: mutation in any of HPS1 (10q23.1), HPS2 (5q13) , HPS3 (3q24), HPS4 (22q11.2-q12.2), | ||
| - | * Chediak-Higashi syndrome: chromosome 1 | + | * [[chediak_higashi_syndrome|Chediak-Higashi syndrome]]: chromosome 1 |
| - | * OA: X-linked | + | * OA: Ocular Albinism |
| * OA1 gene mutations (Xp22): males with normal hair and skin pigment, abnormal melanosome production | * OA1 gene mutations (Xp22): males with normal hair and skin pigment, abnormal melanosome production | ||
| - | ==== Other Findings ==== | + | * giant melanosomes on skin biopsy if preformed, defect is in melanosome production |
| + | * can have late onset sensorineural deafness | ||
| + | * female carriers have mosaic pigmentation of peripheral fundus | ||
| + | * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600, | ||
| + | * OA3: Autosomal recessive. [[https:// | ||
| + | * OA with sensorineural deafness: [[https:// | ||
| + | * [[waardenburg_syndrome|Waardenburg Syndrome]] type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene | ||
| + | ====Relative Frequency Estimates==== | ||
| + | ^Type ^Gene ^Share of albinism cases worldwide ^Estimated prevalence ^Notable population patterns^ | ||
| + | |OCA1| TYR| 48% (most common in Caucasians) |1:40,000 globally |Most common subtype in Europeans and Japanese (1/3 of Japanese OCA)| | ||
| + | |OCA2| OCA2| 30% (most common in Africa) may be the most common world wide but the literature skews in favor of studies of predominately Caucasian patients |1: | ||
| + | |OCA3| TYRP1 |3%|1:8,500 in southern Africa; nearly absent in Caucasians/ | ||
| + | |OCA4| SLC45A2|17%|1: | ||
| + | |OCA5–8| 4q24 locus, SLC24A5, LRMDA, DCT|Rare / not well defined |Not well established |Individually rare; prevalence poorly characterized| | ||
| + | |Ocular albinism (OA1)| GPR143 (X-linked)| 7% of molecularly diagnosed albinism series| 1: | ||
| + | ==== Other Findings ==== | ||
| * OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), | * OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), | ||
| * OCA1B: white to very light hair and skin at birth with variable amounts of darkening, pigmented nevi and freckles can develop | * OCA1B: white to very light hair and skin at birth with variable amounts of darkening, pigmented nevi and freckles can develop | ||
| * OCA2: Pigmented hair at birth, no generalized skin pigmentation but pigmented nevi and freckles can develop | * OCA2: Pigmented hair at birth, no generalized skin pigmentation but pigmented nevi and freckles can develop | ||
| * OCA4: Variable pigmentation of skin and hair, similar to OCA2 | * OCA4: Variable pigmentation of skin and hair, similar to OCA2 | ||
| - | * Hermansky-Pudlak syndrome: lethal subtype | + | * [[hermansky_pudlak_syndrome|Hermansky-Pudlak syndrome]] |
| - | * Chediak-Higashi syndrome: lethal subtype | + | * Potentially |
| - | * OA1: giant melanosomes on skin biopsy if preformed, defect is in melanosome production, can have late onset sensorineural deafness, female carriers have mosaic pigmentation of peripheral fundus | + | * Bleeding diathesis |
| - | * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600, | + | * Pulmonary Fibrosis |
| - | * OA3: ocular albinism that is autosomal recessive: OMIM: 203310 (6q13-q15) or (15q11.2-q12) | + | * Granulomatous colitis |
| - | * OA with sensorineural deafness: OMIM: 103470 (11q14-q21, 3p14.1-p12.3) | + | * [[chediak_higashi_syndrome|Chediak-Higashi syndrome]] |
| - | * Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene | + | * Potentially |
| + | * Congenital Immunodeficiency causing infections of skin and respiratory tract | ||
| + | * Bleeding Diathesis | ||
| + | * Progressive Neurodegeneration | ||
| + | |||
| ==== References ==== | ==== References ==== | ||
| - | * Duane' | + | * [[https:// |
| * Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 11: | * Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 11: | ||
| * [[http:// | * [[http:// | ||
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| * [[http:// | * [[http:// | ||
| - | {{tag> | + | {{tag> |