Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Detalhes bibliográficos
Autor(a) principal: Ceroni,José RM
Data de Publicação: 2018
Outros Autores: Yamamoto,Guilherme L, Honjo,Rachel S, Kim,Chong A, Passos-Bueno,Maria R, Bertola,Débora R
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100085
Resumo: Abstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation. Patients in this group often present alkaline phosphatase serum levels abnormalities and neurological symptoms. We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5’ untranslated region and part of exon 1 of PIGL. In CHIME syndrome, a recurrent missense mutation c.500T > C (p.Leu167Pro) is found in the majority of patients, associated with a null mutation in the other allele, including an overrepresentation of large deletions. The latter are not detected by the standard analysis in sequencing techniques, including next-generation sequencing. Thus, in individuals with a clinical diagnosis of CHIME syndrome in which only one mutation is found, an active search for a large deletion should be sought.
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spelling Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?PIGLCHIME syndromeGPI biosynthesislarge deletionAbstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation. Patients in this group often present alkaline phosphatase serum levels abnormalities and neurological symptoms. We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5’ untranslated region and part of exon 1 of PIGL. In CHIME syndrome, a recurrent missense mutation c.500T > C (p.Leu167Pro) is found in the majority of patients, associated with a null mutation in the other allele, including an overrepresentation of large deletions. The latter are not detected by the standard analysis in sequencing techniques, including next-generation sequencing. Thus, in individuals with a clinical diagnosis of CHIME syndrome in which only one mutation is found, an active search for a large deletion should be sought.Sociedade Brasileira de Genética2018-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100085Genetics and Molecular Biology v.41 n.1 2018reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2017-0172info:eu-repo/semantics/openAccessCeroni,José RMYamamoto,Guilherme LHonjo,Rachel SKim,Chong APassos-Bueno,Maria RBertola,Débora Reng2018-04-09T00:00:00Zoai:scielo:S1415-47572018000100085Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2018-04-09T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
title Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
spellingShingle Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Ceroni,José RM
PIGL
CHIME syndrome
GPI biosynthesis
large deletion
title_short Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
title_full Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
title_fullStr Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
title_full_unstemmed Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
title_sort Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
author Ceroni,José RM
author_facet Ceroni,José RM
Yamamoto,Guilherme L
Honjo,Rachel S
Kim,Chong A
Passos-Bueno,Maria R
Bertola,Débora R
author_role author
author2 Yamamoto,Guilherme L
Honjo,Rachel S
Kim,Chong A
Passos-Bueno,Maria R
Bertola,Débora R
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Ceroni,José RM
Yamamoto,Guilherme L
Honjo,Rachel S
Kim,Chong A
Passos-Bueno,Maria R
Bertola,Débora R
dc.subject.por.fl_str_mv PIGL
CHIME syndrome
GPI biosynthesis
large deletion
topic PIGL
CHIME syndrome
GPI biosynthesis
large deletion
description Abstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation. Patients in this group often present alkaline phosphatase serum levels abnormalities and neurological symptoms. We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5’ untranslated region and part of exon 1 of PIGL. In CHIME syndrome, a recurrent missense mutation c.500T > C (p.Leu167Pro) is found in the majority of patients, associated with a null mutation in the other allele, including an overrepresentation of large deletions. The latter are not detected by the standard analysis in sequencing techniques, including next-generation sequencing. Thus, in individuals with a clinical diagnosis of CHIME syndrome in which only one mutation is found, an active search for a large deletion should be sought.
publishDate 2018
dc.date.none.fl_str_mv 2018-03-01
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=S1415-47572018000100085
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100085
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1678-4685-gmb-2017-0172
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.41 n.1 2018
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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instname_str Sociedade Brasileira de Genética (SBG)
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collection Genetics and Molecular Biology
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