Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. (4th March 2019)

• Record Type: Journal Article
• Authors: Michaud, Vincent; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Pennamen, Perrine; Plaisant, Claudio; Lasseaux, Eulalie; Arveiler, Benoit
• Is Part Of: Ophthalmic genetics. Volume 40:Number 2(2019)
• Page Start: 161
• Page End: 164
• Publication Date: 2019-03-04
• Subjects: Congenital nystagmus -- albinism -- FRMD7 -- molecular genetics -- next-generation sequencing; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2019.1592201
• Languages: English
• ISSNs: 1381-6810

Abstract

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.