1. Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
- Author
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Perrine Pennamen, Benoit Arveiler, Vincent Michaud, Sabine Defoort-Dhellemmes, Claudio Plaisant, Eulalie Lasseaux, and Isabelle Drumare
- Subjects
Ocular albinism ,Male ,medicine.medical_specialty ,genetic structures ,Mutation, Missense ,Slit Lamp Microscopy ,Diagnosis, Differential ,X Chromosome Inactivation ,Ophthalmology ,Molecular genetics ,medicine ,Humans ,Child ,Genetics (clinical) ,business.industry ,High-Throughput Nucleotide Sequencing ,Infant ,Membrane Proteins ,Genetic Diseases, X-Linked ,medicine.disease ,Albinism, Ocular ,eye diseases ,Pedigree ,Cytoskeletal Proteins ,Pediatrics, Perinatology and Child Health ,Albinism ,Female ,business ,Nystagmus, Congenital ,Congenital nystagmus ,Tomography, Optical Coherence - Abstract
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.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.By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation.
- Published
- 2019