Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study

Autor:	Manuel Ramos Jiménez, Pilar Llavero Valero, María González del Pozo, María José Morillo Sánchez, Beatriz Ponte Zuñiga, Enrique Rodríguez De La Rúa Franch, Guillermo Antiñolo
Rok vydání:	2019
Předmět:	medicine.medical_specialty genetic structures medicine.diagnostic_test business.industry Fundus photography medicine.disease eye diseases Foveoschisis Frameshift mutation Ophthalmology Pediatrics Perinatology and Child Health Retinitis pigmentosa medicine Microphthalmos sense organs business Exome Genetics (clinical) Exome sequencing Electroretinography
Zdroj:	Ophthalmic Genetics. 40:288-292
ISSN:	1744-5094 1381-6810
Popis:	Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing. Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25). Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::6e766600db2ff909b1bde07379cee4ee https://doi.org/10.1080/13816810.2019.1633547 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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