A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.

[oculocutaneous albinism]

The first white Doberman pinscher (WDP ) dog was registered by the American Kennel Club in 1976 . The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring . The WDP phenotype closely resembles human oculocutaneous albinism (OCA ) and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs . This study had three specific aims : (1 ) produce a detailed description of the ocular phenotype of WDPs , (2 ) objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs , and (3 ) determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype . WDPs have a consistent ocular phenotype of photophobia , hypopigmented adnexal structures , blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid . WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs ); cutaneous tumors were noted in 12 /20 WDP (<5 years of age : 4 /12 ; >5 years of age : 8 /8 ) and 1 /20 SDPs (p <0 .00001 ). Using exclusion analysis , four OCA causative genes were investigated for their association with WDP phenotype ; TYR , OCA 2 , TYRP 1 and SLC 45 A 2 . SLC 45 A 2 was found to be linked to the phenotype and gene sequencing revealed a 4 ,081 base pair deletion resulting in loss of the terminus of exon seven of SLC 45 A 2 (chr 4 âˆ¶77 ,062 ,968 -77 ,067 ,051 ). This mutation is highly likely to be the cause of the WDP phenotype and is supported by a lack of detectable SLC 45 A 2 transcript levels by reverse transcriptase PCR . The WDP provides a valuable model for studying OCA 4 visual disturbances and melanocytic neoplasms in a large animal model .

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Diseases presenting "a detailed description of the ocular phenotype of wdps" symptom

oculocutaneous albinism

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