Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de Novo variants besides an overt CREBBP mutation

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dc.contributor.authorH J Yoo-
dc.contributor.authorKyung Kim-
dc.contributor.authorI H Kim-
dc.contributor.authorS H Rho-
dc.contributor.authorJ E Park-
dc.contributor.authorK Y Lee-
dc.contributor.authorS A Kim-
dc.contributor.authorB Y Choi-
dc.contributor.authorNamshin Kim-
dc.date.accessioned2017-04-19T10:02:22Z-
dc.date.available2017-04-19T10:02:22Z-
dc.date.issued2015-
dc.identifier.issn1422-0067-
dc.identifier.uri10.3390/ijms16035697.ko
dc.identifier.urihttps://oak.kribb.re.kr/handle/201005/12498-
dc.description.abstractRubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES) to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS) and Autism diagnostic interview revised (ADI-R) to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes.-
dc.publisherMDPI-
dc.titleWhole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de Novo variants besides an overt CREBBP mutation-
dc.title.alternativeWhole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de Novo variants besides an overt CREBBP mutation-
dc.typeArticle-
dc.citation.titleInternational Journal of Molecular Sciences-
dc.citation.number3-
dc.citation.endPage5713-
dc.citation.startPage5697-
dc.citation.volume16-
dc.contributor.affiliatedAuthorKyung Kim-
dc.contributor.affiliatedAuthorNamshin Kim-
dc.contributor.alternativeName유희정-
dc.contributor.alternativeName김경-
dc.contributor.alternativeName김인향-
dc.contributor.alternativeName노성환-
dc.contributor.alternativeName박종은-
dc.contributor.alternativeName이기영-
dc.contributor.alternativeName김순애-
dc.contributor.alternativeName최병윤-
dc.contributor.alternativeName김남신-
dc.identifier.bibliographicCitationInternational Journal of Molecular Sciences, vol. 16, no. 3, pp. 5697-5713-
dc.identifier.doi10.3390/ijms16035697-
dc.subject.keywordAcid labile subunit (IGFALS) gene-
dc.subject.keywordAutism spectrum disorder (ASD)-
dc.subject.keywordCREB (cAMP response element binding protein) binding protein (CREBBP) gene-
dc.subject.keywordDe novo variants-
dc.subject.keywordInsulin-like growth factor-binding protein-
dc.subject.keywordRubinstein-Taybi syndrome (RSTS)-
dc.subject.keywordTenascin C (TNC) gene-
dc.subject.localAcid labile subunit (IGFALS) gene-
dc.subject.localAutism spectrum disorders-
dc.subject.localAutism spectrum disorder (ASD)-
dc.subject.localAutism spectrum disorder-
dc.subject.localCREB (cAMP response element binding protein) binding protein (CREBBP) gene-
dc.subject.localDe novo variants-
dc.subject.localInsulin-like growth factor-binding protein-
dc.subject.localinsulin-like growth factor-binding proteins(IGF-BPs)-
dc.subject.localRubinstein-Taybi syndrome (RSTS)-
dc.subject.localTenascin C (TNC) gene-
dc.description.journalClassY-
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