Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
STEM CELL RESEARCH
Authors: Baulier, Edouard; Diaz, Alejandro Garcia; Corneo, Barbara; Farber, Debora B.
Abstract
Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates.
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
OPHTHALMIC GENETICS
Authors: Michaud, Vincent; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Pennamen, Perrine; Plaisant, Claudio; Lasseaux, Eulalie; Arveiler, Benoit
Abstract
Background: Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are associated with pathogenic variants of the GPR143 and FRMD7 genes.Materials and Methods: Patients' DNA was analyzed using a next-generation sequencing (NGS) panel of genes involved in albinism and related pathologies (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, C10ORF11, GPR143, SLC38A8, HPS 1 to 10, LYST, MITF, FRMD7)Results: We report a 4 generation family with 5 affected members initially referred for molecular diagnosis of ocular albinism. A missense variant of FRMD7 was found in 3 affected cases and one female carrier. We show that the disease in the affected girl is due to skewed inactivation of the X chromosome.Conclusions: By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation.
COA
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