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Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada
Cited By :2
Export Date: 1 March 2024
CODEN: OGENE
Correspondence Address: Hèon, E.; Hospital for Sick ChildrenCanada; email: elise.heon@sickkids.ca
Chemicals/CAS: adenosylhomocysteinase, 9025-54-1; hydroxychloroquine sulfate, 747-36-4
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Pechhacker, Monika K. Grudzinska
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency
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Background S-adenosylhomocysteine hydrolase deficiency due to pathologic variants inAHCYgene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants inCRB1gene are known to cause a wide spectrum of autosomal recessive retinal diseases with Leber's congenital amaurosis as a most common. The aim of this study is to report co-inheritance of neurometabolic disease and eye disease in a pedigree. Materials and Methods Comprehensive eye examination was performed in available family members together with color vision test, visual fields, fundus images, OCT, electroretinogram and visual evoked potentials. Genetic testing included whole-exome sequencing (WES), retinal dystrophy gene panel and segregation analysis. Results Two children from a family not known to be consanguineous were affected with neurometabolic disease and one of them presented with reduced vision due to maculopathy. The mother had symptoms of retinal degeneration of unspecified cause. Clinical WES revealed homozygous missense pathologic variants inAHCYgene c.148G>A, p.(Ala50Thr) as a cause of S-adenosylhomocysteine hydrolase deficiency. Retinal dystrophy gene panel sequencing revealed two heterozygous missense pathologic variants inCRB1gene c.1831T>C, p.(Ser611Pro) and c.3955T>C, p.(Phe1319Leu) in the proband and her mother. These variants segregated with disease phenotype in family members. Conclusions Establishing an ocular genetic diagnosis may be challenging with the co-existence of a rare systemic genetic disease with previously unknown eye involvement. Extensive phenotyping and genotyping of available family members showed that the proband and her mother shared aCRB1-related retinopathy at different stages while the brother did not.
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<div class="JournalArticle Publication short-list"> <div class="authors"> <span class="author-name" > Pechhacker, Monika K. Grudzinska </span> <span class="author-type"> </span> ; <span class="author-name" > Di Scipio, Matteo </span> <span class="author-type"> </span> ; <span class="author-name" > Vig, Anjali </span> <span class="author-type"> </span> ; <span class="author-name" > Tumber, Anupreet </span> <span class="author-type"> </span> ; <span class="author-name" > Roslin, Nicole </span> <span class="author-type"> </span> ; <span class="author-name" > Tavares, Erika </span> <span class="author-type"> </span> ; <span class="author-name" > Vincent, Ajoy </span> <span class="author-type"> </span> ; <span class="author-name" > Heon, Elise ✉ </span> <span class="author-type"> </span> </div ><div class="title"><a href="/gui2/?mode=browse¶ms=publication;31461640" mtid="31461640" target="_blank">CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency</a></div> <div class="pub-info"> <span class="journal-title">OPHTHALMIC GENETICS</span> <span class="journal-volume">41</span> : <span class="journal-issue">5</span> <span class="page"> pp. 457-464. , 8 p. </span> <span class="year">(2020)</span> </div> <div class="pub-end"><div class="identifier-list"> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1080/13816810.2020.1790013" target="_blank" href="https://doi.org/10.1080/13816810.2020.1790013"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000550546200001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000550546200001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85088289194" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85088289194"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="32689861" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32689861&dopt=Abstract"> PubMed </a> </span> </span> </div> <div class="short-pub-prop-list"> <span class="short-pub-mtid"> Közlemény:31461640 </span> <span class="status-holder"><span class="status-data status-VALIDATED"> Egyeztetett </span></span> <span class="pub-core"> Idéző </span> <span class="pub-type">Folyóiratcikk (Szakcikk ) </span> <!-- && !record.category.scientific --> <span class="pub-category">Tudományos</span> </div> </div> </div><div class="JournalArticle Publication long-list">
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<div class="autype autype0"> <span class="author-name" >Pechhacker Monika K. Grudzinska
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<span class="author-name" >Di Scipio Matteo
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<span class="author-name" >Vincent Ajoy
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<span class="author-name" >Heon Elise ✉
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<div class="title"><a href="/gui2/?mode=browse¶ms=publication;31461640" target="_blank">CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency</a></div> <div> <span class="journal-title">OPHTHALMIC GENETICS</span>
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<div class="lastModified">Utolsó módosítás: 2022.01.13. 15:17 Vasvari Lilian (MTMT Központ, admin)
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada
Cited By :2
Export Date: 1 March 2024 ...</pre>
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