Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene
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Publication Date: | 2013 |
Other Authors: | , , , , , , , , |
Format: | Article |
Language: | por |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10400.4/1537 |
Summary: | Aims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling. |
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Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 geneDescrição de uma forma autossômica dominante de síndrome de Kabuki por mutação no gene MLL2Síndrome de KabukiAims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling.RIHUCSantos, MIBeleza-Meireles, ALoureiro, SFonseca, MReis, CFRodrigues, FRamos, FRamos, LCardoso, ESaraiva, JM2013-04-22T14:35:15Z20132013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1537porScientia Medica. 2013; 23 (1): 47-51info: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:RCAAP2023-07-11T14:22:48Zoai:rihuc.huc.min-saude.pt:10400.4/1537Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:01.933637Repositório 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 |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene Descrição de uma forma autossômica dominante de síndrome de Kabuki por mutação no gene MLL2 |
title |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene |
spellingShingle |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene Santos, MI Síndrome de Kabuki |
title_short |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene |
title_full |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene |
title_fullStr |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene |
title_full_unstemmed |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene |
title_sort |
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene |
author |
Santos, MI |
author_facet |
Santos, MI Beleza-Meireles, A Loureiro, S Fonseca, M Reis, CF Rodrigues, F Ramos, F Ramos, L Cardoso, E Saraiva, JM |
author_role |
author |
author2 |
Beleza-Meireles, A Loureiro, S Fonseca, M Reis, CF Rodrigues, F Ramos, F Ramos, L Cardoso, E Saraiva, JM |
author2_role |
author author author author author author author author author |
dc.contributor.none.fl_str_mv |
RIHUC |
dc.contributor.author.fl_str_mv |
Santos, MI Beleza-Meireles, A Loureiro, S Fonseca, M Reis, CF Rodrigues, F Ramos, F Ramos, L Cardoso, E Saraiva, JM |
dc.subject.por.fl_str_mv |
Síndrome de Kabuki |
topic |
Síndrome de Kabuki |
description |
Aims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-04-22T14:35:15Z 2013 2013-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.4/1537 |
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http://hdl.handle.net/10400.4/1537 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Scientia Medica. 2013; 23 (1): 47-51 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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