SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

[oculocutaneous albinism]

Oculocutaneous Albinism (OCA ) is a heterogeneous group of inherited diseases involving hair , skin and eyes . To date , six forms are recognized on the effects of different melanogenesis genes . OCA 4 is caused by mutations in SLC 45 A 2 showing a heterogeneous phenotype ranging from white hair , blue irides and nystagmus to brown /black hair , brown irides and no nystagmus . The high clinic variety often leads to misdiagnosis . Our aim is to contribute to OCA 4 diagnosis defining SLC 45 A 2 genetic variants in Italian patients with OCA without any TYR , OCA 2 and TYRP 1 gene defects .A fter the clinical diagnosis of OCA , all patients received genetic counseling and genetic test . Automatic sequencing of TYR , OCA 2 , and TYRP 1 genes was performed on DNA of 117 albino patients . Multiplex Ligation-dependent Probe Amplification (MLPA ) was carried out on TYR and OCA 2 genes to increase the mutation rate . SLC 45 A 2 gene sequencing was then executed in the patients with a single mutation in one of the TYR , OCA 2 , TYRP 1 genes and in the patients , which resulted negative at the screening of these genes .S LC 45 A 2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients . Four previously reported SLC 45 A 2 mutations were found : p .G 100 S , p .W 202 C , p .A 511 E and c .986 delC , and three novel variants were identified : p .M 265 L , p .H 94 D , and c .1156 +1 G >A . All the alterations have been detected in the group of patients without mutations in the other OCA genes .Three new variants were identified in OCA 4 gene ; the analysis allowed the classification of a patient previously misdiagnosed as OA 1 because of skin and hair pigmentation presence . The molecular defects in SLC 45 A 2 gene represent the 3 .4 % in this cohort of Italian patients , similar to other Caucasian populations ; our data differ from those previously published by an Italian researcher group , obtained on a smaller cohort of patients .

Diseases
Validation

Diseases presenting "blue irides and nystagmus to brown" symptom

oculocutaneous albinism

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