SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies |
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Authors: | Lucia Mauri Luca Barone Muna Al Oum Alessandra Del Longo Elena Piozzi Emanuela Manfredini Franco Stanzial Francesco Benedicenti Silvana Penco Maria Cristina Patrosso |
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Institution: | 1. Medical Genetics Unit, Niguarda Ca'' Granda Hospital, Milan, Italy;2. Pediatric Ophthalmology, Niguarda Ca'' Granda Hospital, Milan, Italy;3. Departement of Ophthalmology, University of Insubria–Circolo Hospital, Varese, Italy;4. Genetic Counseling Service, Hospital of Bolzano, Italy |
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Abstract: | BackgroundOculocutaneous 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.OCA4 is caused by mutations in SLC45A2 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 OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects.Materials and methodsAfter the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes.ResultsSLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes.ConclusionsThree new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 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. |
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Keywords: | SLC45A2 solute carrier family 45 member 2 [Homo sapiens (human)] coding for MATP (membrane-associated transporter protein) TYR tyrosinase [Homo sapiens (human)] OCA2 oculocutaneous albinism II [Homo sapiens (human)] TYRP1 tyrosinase-related protein 1 [Homo sapiens (human)] SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger) member 5 [Homo sapiens (human)] C10orf11 chromosome 10 open reading frame 11 [Homo sapiens (human)] DCT dopachrome tautomerase [Homo sapiens (human)] OCA oculocutaneous albinism OA1 ocular albinism type 1 OCT optical coherence tomography cDNA DNA complementary to RNA wt wild type HDD Human Diversity Database HVD Human Variation Database |
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