CRB1 -Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes
| Autor: | Giancarlo Iarossi, Paolo Enrico Maltese, Giorgio Marchini, Matteo Bertelli, Alessandra Zulian, Francesca Fanelli, Davide Cerra, Elena Gusson, Vittorio Unfer, T Dallavilla, Stefano Paolacci |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Proband Genotype genetic structures Retinoschisis Mutation Missense Nerve Tissue Proteins Fertilization in Vitro Retinal Pigment Epithelium 03 medical and health sciences 0302 clinical medicine Cone dystrophy 030225 pediatrics Retinitis pigmentosa Twins Dizygotic medicine Humans Stargardt Disease Missense mutation Eye Proteins Exome Genetics CRB1 business.industry Genetic Variation Membrane Proteins General Medicine medicine.disease Stargardt disease Ophthalmology Phenotype Child Preschool Pediatrics Perinatology and Child Health Oocytes Autofluorescence 030221 ophthalmology & optometry Female business |
| Zdroj: | Journal of Pediatric Ophthalmology & Strabismus. 57 |
| ISSN: | 1938-2405 0191-3913 |
| DOI: | 10.3928/01913913-20200204-02 |
| Popis: | Cystic maculopathy has been associated with genetic disorders such as retinitis pigmentosa, X-linked retinoschisis, cone dystrophy, and foveal retinoschisis. Familial foveal retinoschisis was recently described as a rare disease caused by CRB1 variants. The authors report the phenotype-genotype pattern of a pair of dizygotic twins with early-onset cystic maculopathy due to CRB1 pathogenic variants. The twins were conceived by heterologous fertilization with variant-carrying oocytes. The probands were monitored for a period of 4 years. Next generation sequencing of a panel of genes responsible for retinal dystrophies was performed. Both children carried three pathogenic variants in CRB1 : a novel heterozygous truncating variant p.(Val855*) inherited from the father and two known heterozygous missense variants, p.[(Phe144Val; Thr745Met)], inherited from the oocyte donor. The findings confirm that CRB1 variants can be responsible for foveal retinoschisis with variable clinical expressivity ranging from schitic macular alteration to early-onset forms of cystic maculopathy. The authors highlight the importance of exome analysis of gamete donors to assess the likelihood of recessively inherited disorders by means of a prediction algorithm able to combine parent and donor exome data. [ J Pediatr Ophthalmol Strabismus . 2020;57:e19–e24.] |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|