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Article: A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update

TitleA novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update
Authors
Issue Date2017
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2017, v. 173 n. 4, p. 1109-1114 How to Cite?
AbstractDe novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in <1% of patients with Costello syndrome. From literature search, there were only two other patients reported with mutations involving the same location. We summarized and updated their findings, and discussed evidence to show that these patients with less obvious signs of Costello syndrome may not necessarily run a more benign clinical course.
Persistent Identifierhttp://hdl.handle.net/10722/241614
ISSN
2017 Impact Factor: 2.264
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChiu, ATG-
dc.contributor.authorLeung, GKC-
dc.contributor.authorChu, YWY-
dc.contributor.authorGripp, KW-
dc.contributor.authorChung, BHY-
dc.date.accessioned2017-06-20T01:46:07Z-
dc.date.available2017-06-20T01:46:07Z-
dc.date.issued2017-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2017, v. 173 n. 4, p. 1109-1114-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/241614-
dc.description.abstractDe novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in <1% of patients with Costello syndrome. From literature search, there were only two other patients reported with mutations involving the same location. We summarized and updated their findings, and discussed evidence to show that these patients with less obvious signs of Costello syndrome may not necessarily run a more benign clinical course.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.-
dc.rightsThis is the peer reviewed version of the following article: American Journal of Medical Genetics Part A, 2017, v. 173 n. 4, p. 1109-1114, which has been published in final form at https://doi.org/10.1002/ajmg.a.38118. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.-
dc.titleA novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update-
dc.typeArticle-
dc.identifier.emailChiu, ATG: atgchiu@hku.hk-
dc.identifier.emailChu, YWY: chuwyy@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepostprint-
dc.identifier.doi10.1002/ajmg.a.38118-
dc.identifier.hkuros272700-
dc.identifier.volume173-
dc.identifier.issue4-
dc.identifier.spage1109-
dc.identifier.epage1114-
dc.identifier.isiWOS:000397855700038-
dc.publisher.placeUnited States-

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