[HTML][HTML] Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

F Testa, M Filippelli, R Brunetti-Pierri… - European Journal of …, 2017 - nature.com
F Testa, M Filippelli, R Brunetti-Pierri, G Di Fruscio, V Di Iorio, M Pizzo, A Torella
European Journal of Human Genetics, 2017nature.com
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 …
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.
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