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primary topic: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset

A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset
type: AcademicArticle
type: Article
abstract: Background αB-crystallin is a promiscuous protein involved in numerous cell functions. Mutations in CRYAB have been found in patients with different pathological phenotypes that are not properly understood. Patients can present different diseases like cataracts, muscle weakness, myopathy, cardiomyopathy, respiratory insufficiency or dysphagia, but also a variable combination of these pathologies has been found. These mutations can show either autosomal dominant or recessive mode of inheritance and variable penetrance and expressivity. This is the first report of congenital cataracts and myopathy described in childhood due to a CRYAB mutation with autosomal dominant mode of inheritance. Methods The whole exome sequence was subjected to phenotype-driven analysis and a novel variant in CRYAB was detected: c.514delG, p.(Ala172ProfsTer14). The mutation was located in the C-terminal domain of the protein, which is essential for chaperone activity. The deduced protein was analyzed searching for alterations of the relevant physico-chemical properties described for this domain. A muscle biopsy was also tested for CRYAB with immunohistochemical and histoenzymatic techniques. Results CRYAB displayed a mild immunoreactivity in the subsarcolemmal compartment with no pathological sarcoplasmic accumulation. It agrees with an alteration of the physico-chemical properties predicted for the C-terminal domain: hydrophobicity, stiffness, and isomerization. Conclusions The described mutation leads to elongation of the protein at the carboxi-terminal domain (CTD) with altered properties, which are essential for solubility and activity. It suggests that can be the cause of the severe conditions observed in this patient.
date: 2020-05
volume: 8
issue: 8
is part of: Molecular Genetics & Genomic Medicine
status: peerReviewed
status: published
author list: authors
type: EPrint
type: ArticleEPrint
is part of: repository
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has document: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Otro)
subject: Biomedicine

A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Texto)
type: Document
has file: mgg3.1290.pdf
has part: mgg3.1290.pdf

Molecular Genetics & Genomic Medicine
type: Collection
issn: 23249269

Luis Alcaraz‐Mas
type: Person
given name: Luis
family name: Alcaraz‐Mas

Beatriz Muñoz-Cabello
type: Person
given name: Beatriz
family name: Muñoz-Cabello

Diego Amorós
type: Person
given name: Diego
family name: Amorós

Ana Teresa Marcos Rodríguez
type: Person
given name: Ana Teresa
family name: Marcos Rodríguez

José M. Navarro‐Pando
type: Person
given name: José M.
family name: Navarro‐Pando

Francisco Galán
type: Person
given name: Francisco
family name: Galán

Eloy Rivas Infante
type: Person
given name: Eloy
family name: Rivas Infante

A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Otro)
type: Document
is version of: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Texto)
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A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Otro)
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A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Otro)
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is version of: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Texto)
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A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Otro)
type: Document
is version of: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Texto)
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A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Otro)
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is version of: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Texto)
is volatile version of: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset (Texto)
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primary topic: A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset

Biomedicine
type: Concept
preferred label: Biomedicina @es