Mohammad M Al-Qattan, Zuhair A Rahbeeni, Zuhair N Al-Hassnan, Abdulaziz Jarman, Atif Rafique, Nehal Mahabbat, Faris A S Alsufayan
{"title":"染色体16p13.3包括SLX4、DNASE1、TRAP1和CREBBP基因的连续基因缺失综合征表现为相对轻微的鲁宾斯坦-泰比综合征表型:沙特男孩一例报告","authors":"Mohammad M Al-Qattan, Zuhair A Rahbeeni, Zuhair N Al-Hassnan, Abdulaziz Jarman, Atif Rafique, Nehal Mahabbat, Faris A S Alsufayan","doi":"10.1155/2020/6143050","DOIUrl":null,"url":null,"abstract":"<p><p>The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the <i>CREBBP</i> gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the <i>SLX4</i>, <i>DNASE1</i>, <i>TRAP1</i>, and <i>CREBBP</i> genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the <i>CREBBP</i> gene (with a preserved 5' region), which might explain his relatively mild phenotype.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/6143050","citationCount":"2","resultStr":"{\"title\":\"Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the <i>SLX4</i>, <i>DNASE1</i>, <i>TRAP1</i>, and <i>CREBBP</i> Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.\",\"authors\":\"Mohammad M Al-Qattan, Zuhair A Rahbeeni, Zuhair N Al-Hassnan, Abdulaziz Jarman, Atif Rafique, Nehal Mahabbat, Faris A S Alsufayan\",\"doi\":\"10.1155/2020/6143050\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the <i>CREBBP</i> gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the <i>SLX4</i>, <i>DNASE1</i>, <i>TRAP1</i>, and <i>CREBBP</i> genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the <i>CREBBP</i> gene (with a preserved 5' region), which might explain his relatively mild phenotype.</p>\",\"PeriodicalId\":30325,\"journal\":{\"name\":\"Case Reports in Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1155/2020/6143050\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2020/6143050\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2020/6143050","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.
The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5' region), which might explain his relatively mild phenotype.
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