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Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype

This article describes the ocular phenotype associated with the identified Casitas B-lineage lymphoma (CBL) gene mutation and reviews the current literature. This work also includes the longitudinal follow-up of five unrelated cases of unexplained fundus lesions with visual loss associated with a hi...

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Autores principales: Fardeau, Christine, Alafaleq, Munirah, Ferchaud, Marie-Adélaïde, Hié, Miguel, Besnard, Caroline, Meynier, Sonia, Rieux-Laucat, Frédéric, Roos-Weil, Damien, Cohen, Fleur, Meunier, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318494/
https://www.ncbi.nlm.nih.gov/pubmed/35887217
http://dx.doi.org/10.3390/ijms23147868
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author Fardeau, Christine
Alafaleq, Munirah
Ferchaud, Marie-Adélaïde
Hié, Miguel
Besnard, Caroline
Meynier, Sonia
Rieux-Laucat, Frédéric
Roos-Weil, Damien
Cohen, Fleur
Meunier, Isabelle
author_facet Fardeau, Christine
Alafaleq, Munirah
Ferchaud, Marie-Adélaïde
Hié, Miguel
Besnard, Caroline
Meynier, Sonia
Rieux-Laucat, Frédéric
Roos-Weil, Damien
Cohen, Fleur
Meunier, Isabelle
author_sort Fardeau, Christine
collection PubMed
description This article describes the ocular phenotype associated with the identified Casitas B-lineage lymphoma (CBL) gene mutation and reviews the current literature. This work also includes the longitudinal follow-up of five unrelated cases of unexplained fundus lesions with visual loss associated with a history of hepatosplenomegaly. Wide repeated workup was made to rule out infections, inflammatory diseases, and lysosomal diseases. No variants in genes associated with retinitis pigmentosa, cone–rod dystrophy, and inherited optic neuropathy were found. Molecular analysis was made using next-generation sequencing (NGS) and whole-exome sequencing (WES). The results included two cases sharing ophthalmological signs including chronic macular edema, vascular leakage, visual field narrowing, and electroretinography alteration. Two other cases showed damage to the optic nerve head and a fifth young patient exhibited bilateral complicated vitreoretinal traction and carried a heterozygous mutation in the CBL gene associated with a mutation in the IKAROS gene. Ruxolitinib as a treatment for RASopathy did not improve eye conditions, whereas systemic lesions were resolved in one patient. Mutations in the CBL gene were found in all five cases. In conclusion, a detailed description may pave the way for the CBL mutation ocular phenotype. Genetic analysis using whole-exome sequencing could be useful in the diagnosis of unusual clinical features.
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spelling pubmed-93184942022-07-27 Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype Fardeau, Christine Alafaleq, Munirah Ferchaud, Marie-Adélaïde Hié, Miguel Besnard, Caroline Meynier, Sonia Rieux-Laucat, Frédéric Roos-Weil, Damien Cohen, Fleur Meunier, Isabelle Int J Mol Sci Article This article describes the ocular phenotype associated with the identified Casitas B-lineage lymphoma (CBL) gene mutation and reviews the current literature. This work also includes the longitudinal follow-up of five unrelated cases of unexplained fundus lesions with visual loss associated with a history of hepatosplenomegaly. Wide repeated workup was made to rule out infections, inflammatory diseases, and lysosomal diseases. No variants in genes associated with retinitis pigmentosa, cone–rod dystrophy, and inherited optic neuropathy were found. Molecular analysis was made using next-generation sequencing (NGS) and whole-exome sequencing (WES). The results included two cases sharing ophthalmological signs including chronic macular edema, vascular leakage, visual field narrowing, and electroretinography alteration. Two other cases showed damage to the optic nerve head and a fifth young patient exhibited bilateral complicated vitreoretinal traction and carried a heterozygous mutation in the CBL gene associated with a mutation in the IKAROS gene. Ruxolitinib as a treatment for RASopathy did not improve eye conditions, whereas systemic lesions were resolved in one patient. Mutations in the CBL gene were found in all five cases. In conclusion, a detailed description may pave the way for the CBL mutation ocular phenotype. Genetic analysis using whole-exome sequencing could be useful in the diagnosis of unusual clinical features. MDPI 2022-07-17 /pmc/articles/PMC9318494/ /pubmed/35887217 http://dx.doi.org/10.3390/ijms23147868 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Fardeau, Christine
Alafaleq, Munirah
Ferchaud, Marie-Adélaïde
Hié, Miguel
Besnard, Caroline
Meynier, Sonia
Rieux-Laucat, Frédéric
Roos-Weil, Damien
Cohen, Fleur
Meunier, Isabelle
Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype
title Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype
title_full Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype
title_fullStr Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype
title_full_unstemmed Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype
title_short Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype
title_sort casitas b-lineage lymphoma gene mutation ocular phenotype
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318494/
https://www.ncbi.nlm.nih.gov/pubmed/35887217
http://dx.doi.org/10.3390/ijms23147868
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