Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth

Detalhes bibliográficos
Autor(a) principal: Matoso, E
Data de Publicação: 2014
Outros Autores: Ramos, F, Ferrão, J, Pires, LM, Mascarenhas, A, Melo, JB, Carreira, IM
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/1989
Resumo: We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.
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spelling Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowthCriançaPerturbações do DesenvolvimentoPerturbações da LinguagemProteína FGFRL1 humanaWe report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.RIHUCMatoso, ERamos, FFerrão, JPires, LMMascarenhas, AMelo, JBCarreira, IM2016-12-12T15:27:47Z20142014-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1989engMol Cytogenet. 2014 Dec 9;7(1):87. d10.1186/s13039-014-0087-2info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:23:17Zoai:rihuc.huc.min-saude.pt:10400.4/1989Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:25.933535Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
title Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
spellingShingle Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
Matoso, E
Criança
Perturbações do Desenvolvimento
Perturbações da Linguagem
Proteína FGFRL1 humana
title_short Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
title_full Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
title_fullStr Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
title_full_unstemmed Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
title_sort Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
author Matoso, E
author_facet Matoso, E
Ramos, F
Ferrão, J
Pires, LM
Mascarenhas, A
Melo, JB
Carreira, IM
author_role author
author2 Ramos, F
Ferrão, J
Pires, LM
Mascarenhas, A
Melo, JB
Carreira, IM
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Matoso, E
Ramos, F
Ferrão, J
Pires, LM
Mascarenhas, A
Melo, JB
Carreira, IM
dc.subject.por.fl_str_mv Criança
Perturbações do Desenvolvimento
Perturbações da Linguagem
Proteína FGFRL1 humana
topic Criança
Perturbações do Desenvolvimento
Perturbações da Linguagem
Proteína FGFRL1 humana
description We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.
publishDate 2014
dc.date.none.fl_str_mv 2014
2014-01-01T00:00:00Z
2016-12-12T15:27:47Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/1989
url http://hdl.handle.net/10400.4/1989
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Mol Cytogenet. 2014 Dec 9;7(1):87. d
10.1186/s13039-014-0087-2
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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