A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Inborn Errors of Metabolism and Screening |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100802 |
Resumo: | Abstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to q13.2 that would contain the gene responsible for the disorder. Ten positional candidate genes were screened for pathogenic mutations, but none were identified. Next-generation exome sequencing in one affected individual identified a novel SRD5A3 missense mutation c.T744G/p.F248L, which was subsequently confirmed by Sanger sequencing, suggesting a congenital disorder of glycosylation type IQ defect. Isoelectric focusing of serum transferrin showed a type I pattern indicative of an .-glycan assembly defect. This is a novel pathogenic mutation and the first SRD5A3 missense mutation as all others are protein-truncating mutations. |
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Journal of Inborn Errors of Metabolism and Screening |
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A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)congenital glycosylation disorder type ISRD5A3 genehomozygositymappingnext-generation exome sequencing,cerebelloocular syndromeAbstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to q13.2 that would contain the gene responsible for the disorder. Ten positional candidate genes were screened for pathogenic mutations, but none were identified. Next-generation exome sequencing in one affected individual identified a novel SRD5A3 missense mutation c.T744G/p.F248L, which was subsequently confirmed by Sanger sequencing, suggesting a congenital disorder of glycosylation type IQ defect. Isoelectric focusing of serum transferrin showed a type I pattern indicative of an .-glycan assembly defect. This is a novel pathogenic mutation and the first SRD5A3 missense mutation as all others are protein-truncating mutations.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2014-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100802Journal of Inborn Errors of Metabolism and Screening v.2 2014reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409814550528info:eu-repo/semantics/openAccessAl-Sarraj,YasserBen-Omran,TawfegTolefat,MohammedBejaoui,YosraEl-Shanti,HatemKambouris,Marioseng2019-07-12T00:00:00Zoai:scielo:S2326-45942014000100802Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-07-12T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
title |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
spellingShingle |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) Al-Sarraj,Yasser congenital glycosylation disorder type I SRD5A3 gene homozygosity mapping next-generation exome sequencing, cerebelloocular syndrome |
title_short |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
title_full |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
title_fullStr |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
title_full_unstemmed |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
title_sort |
A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) |
author |
Al-Sarraj,Yasser |
author_facet |
Al-Sarraj,Yasser Ben-Omran,Tawfeg Tolefat,Mohammed Bejaoui,Yosra El-Shanti,Hatem Kambouris,Marios |
author_role |
author |
author2 |
Ben-Omran,Tawfeg Tolefat,Mohammed Bejaoui,Yosra El-Shanti,Hatem Kambouris,Marios |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Al-Sarraj,Yasser Ben-Omran,Tawfeg Tolefat,Mohammed Bejaoui,Yosra El-Shanti,Hatem Kambouris,Marios |
dc.subject.por.fl_str_mv |
congenital glycosylation disorder type I SRD5A3 gene homozygosity mapping next-generation exome sequencing, cerebelloocular syndrome |
topic |
congenital glycosylation disorder type I SRD5A3 gene homozygosity mapping next-generation exome sequencing, cerebelloocular syndrome |
description |
Abstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to q13.2 that would contain the gene responsible for the disorder. Ten positional candidate genes were screened for pathogenic mutations, but none were identified. Next-generation exome sequencing in one affected individual identified a novel SRD5A3 missense mutation c.T744G/p.F248L, which was subsequently confirmed by Sanger sequencing, suggesting a congenital disorder of glycosylation type IQ defect. Isoelectric focusing of serum transferrin showed a type I pattern indicative of an .-glycan assembly defect. This is a novel pathogenic mutation and the first SRD5A3 missense mutation as all others are protein-truncating mutations. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100802 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100802 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409814550528 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.2 2014 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
_version_ |
1754732519874363392 |