2020
DOI: 10.1186/s13023-020-01484-8
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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

Abstract: Background Mutations in CRYAA , which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. Results In this study, we performed clinical examination and subsequent genetic analysis in two unrelated sporadic cases of different geographical origins presenting with a complex phenotype of ocular malformation. Both cases manifested bilateral microphthalmia and severe anterior segment dysgenes… Show more

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Cited by 12 publications
(8 citation statements)
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“…Both HSPB4 Y118D mouse models recapitulate the phenotype and the biochemical and functional observations reported, which are the increased protein insolubility and UPR pathway activation in response to ER stress (Xia et al, 2006;Li et al, 2017;Jia et al, 2021). Mutations causing substantial modification of the CTD include the HSPB4 Q147Rfs*48 frameshift mutation or point mutations at the stop codon (Javadiyan et al, 2017;Marakhonov et al, 2020). The latter are the HSPB4 *174Qext*41 and *174Sext*41 de novo mutations, reported in patients suffering from congenital aphakia, a developmental condition characterized by lens absence, microphthalmia, microcornea, and iris hypoplasia/aniridia (Marakhonov et al, 2020).…”
Section: Hspb4 and Hspb5mentioning
confidence: 84%
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“…Both HSPB4 Y118D mouse models recapitulate the phenotype and the biochemical and functional observations reported, which are the increased protein insolubility and UPR pathway activation in response to ER stress (Xia et al, 2006;Li et al, 2017;Jia et al, 2021). Mutations causing substantial modification of the CTD include the HSPB4 Q147Rfs*48 frameshift mutation or point mutations at the stop codon (Javadiyan et al, 2017;Marakhonov et al, 2020). The latter are the HSPB4 *174Qext*41 and *174Sext*41 de novo mutations, reported in patients suffering from congenital aphakia, a developmental condition characterized by lens absence, microphthalmia, microcornea, and iris hypoplasia/aniridia (Marakhonov et al, 2020).…”
Section: Hspb4 and Hspb5mentioning
confidence: 84%
“…Mutations causing substantial modification of the CTD include the HSPB4 Q147Rfs*48 frameshift mutation or point mutations at the stop codon (Javadiyan et al, 2017;Marakhonov et al, 2020). The latter are the HSPB4 *174Qext*41 and *174Sext*41 de novo mutations, reported in patients suffering from congenital aphakia, a developmental condition characterized by lens absence, microphthalmia, microcornea, and iris hypoplasia/aniridia (Marakhonov et al, 2020). These two mutations, falling in the stop codon of the HSPB4 gene, cause the abrogation of the translation termination and the production of an elongated protein.…”
Section: Hspb4 and Hspb5mentioning
confidence: 99%
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“…The DNA samples from two patients were subjected to whole-exome sequencing (WES) with an BGISEQ-500 instrument using pair-end readings with a length of 2 × 100 bp and average on-target coverage of 75× with the MGIEasy Exome Capture V4 reagents (MGI, Shenzhen, China) for library preparation by Genomed Ltd, Moscow, Russia. Bioinformatic analysis was performed using an in-house software pipeline designed to detect both single-nucleotide variants (SNVs) and copy number variations (CNVs) as described earlier ( Marakhonov et al, 2020 ). The results were further filtered for functional consequences and population frequencies (gnomAD AF <0.5% and <0.1% for recessive and dominant genes, respectively) as well as for clinical relevance according to the Human Phenotype Ontology database ( Köhler et al, 2019 ).…”
Section: Molecular Genetic Testingmentioning
confidence: 99%
“…Common additional ocular features include anterior segment dysgenesis, retinal dystrophies, aniridia, and microphthalmia (defined as a small underdeveloped eye, with an axial length of more than two standard deviations below the age adjusted mean) [ 18 , 19 ]. Microphthalmia with cataracts have been associated with mutations in CRYAA , CRYBA4 , CRYBB1 , CRYBB2 , CRYGC , CRYGD , GJA3 , FOXE3 , PITX3 , IPO13 , SIPA1L3 , VSX2 , GJA8 , and NHS [ 16 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 ].…”
Section: Introductionmentioning
confidence: 99%