title: Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
abstract: Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different Italian families. A thorough clinical evaluation of the patients, with whole skeleton X-ray, metabolic assessment and liver ultrasound failed to reveal signs of skeletal dysplasia, metabolic and hepatic alterations. This is the first report showing that the PCYT1A gene can be responsible for isolated forms of retinal dystrophy, particularly without any skeletal involvement, thus further expanding the phenotypic spectrum induced by mutations in this gene.
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Testa
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Mariaelena
authors.initials: M
authors.lastname: Filippelli
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Brunetti-Pierri
authors.affiliation: Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Di Fruscio
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Di Iorio
authors.affiliation: Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Pizzo
authors.affiliation: Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.|Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
authors.forename: Annalaura
authors.initials: A
authors.lastname: Torella
authors.affiliation: Division of Phoniatrics and Audiology, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Barillari
authors.affiliation: Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.|Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
authors.affiliation: Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.|Department of Translational Medicine, Federico II University, Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Simonelli
authors.affiliation: Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.|Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
mesh_terms: D000293:Adolescent; D002648:Child; D019916:Choline-Phosphate Cytidylyltransferase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics*
chemical_list: D019916:Choline-Phosphate Cytidylyltransferase; C517213:PCYT1A protein, human