title: Clinical evaluation and molecular screening of a large consecutive series of albino patients.
abstract: Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations. We report 70 novel mutations and the frequencies of the major causative OCA genes that are as follows: TYR (44%), OCA2 (17%), TYRP1 (1%), SLC45A2 (7%) and SLC24A5 (<0.5%). An additional 5% of patients had GPR143 mutations. In 19% of cases, a second reliable mutation was not detected, whereas 7% of our patients remain still molecularly undiagnosed. This comprehensive study of a consecutive series of OCA/OA1 patients allowed us to perform a clinical evaluation of the different OCA forms.
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Mauri
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Manfredini
authors.affiliation: Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Longo
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Veniani
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Scarcello
authors.affiliation: Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Terrana
authors.affiliation: Polyspecialistic Medical Department, Dermatology Clinic, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Adriano Egidio
authors.initials: AE
authors.lastname: Radaelli
authors.affiliation: Polyspecialistic Medical Department, Dermatology Clinic, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Donata
authors.initials: D
authors.lastname: Calò
authors.affiliation: ENT Department, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Mingoia
authors.affiliation: ENT Department, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Rossetti
authors.affiliation: Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marsico
authors.affiliation: Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Mazza
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Giovanni Pietro
authors.initials: GP
authors.lastname: Gesu
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Cristina Patrosso
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.affiliation: Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Piozzi
authors.affiliation: Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Primignani
mesh_terms: D000328:Adult; D000368:Aged; D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008543:Melanins / Q000096:biosynthesis; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D010088:Oxidoreductases / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; D017920:Antiporters; D005136:Eye Proteins; C095276:GPR143 protein, human; D008543:Melanins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; C506584:SLC24A5 protein, human; C510061:SLC45A2 protein, human; D010088:Oxidoreductases; C489799:TYRP1 protein, human