Case Reports in Genetics最新文献

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A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy. 通过全外显子组测序在患有埃默里-德雷弗斯肌营养不良症的双胞胎中鉴定出一种新的EMD突变。
Case Reports in Genetics Pub Date : 2020-08-24 eCollection Date: 2020-01-01 DOI: 10.1155/2020/2071738
Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li
{"title":"A Novel <i>EMD</i> Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy.","authors":"Xiafei Dai,&nbsp;Rong Luo,&nbsp;Yang Chen,&nbsp;Chenqing Zheng,&nbsp;Yibin Tang,&nbsp;Hongmei Zhang,&nbsp;Ye Su,&nbsp;Tao He,&nbsp;Xiaoping Li","doi":"10.1155/2020/2071738","DOIUrl":"https://doi.org/10.1155/2020/2071738","url":null,"abstract":"<p><p>This case reports a novel hemizygous frameshift <i>EMD</i> mutation (c.487delA, p.Ser163fs) in twins of an Emery-Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"2071738"},"PeriodicalIF":0.0,"publicationDate":"2020-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/2071738","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38362136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review. Shprintzen-Goldberg颅缝闭锁综合征的眼部表现:1例报告及系统回顾。
Case Reports in Genetics Pub Date : 2020-08-19 eCollection Date: 2020-01-01 DOI: 10.1155/2020/7353452
Jamie H Choi, Rachel Li, Rachel Gannaway, Tahnee N Causey, Anna Harrison, Natario L Couser
{"title":"Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.","authors":"Jamie H Choi,&nbsp;Rachel Li,&nbsp;Rachel Gannaway,&nbsp;Tahnee N Causey,&nbsp;Anna Harrison,&nbsp;Natario L Couser","doi":"10.1155/2020/7353452","DOIUrl":"https://doi.org/10.1155/2020/7353452","url":null,"abstract":"<p><p>Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene <i>SKI</i> gene, a known suppressor of TGF-<i>β</i> activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) <i>de novo</i> variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"7353452"},"PeriodicalIF":0.0,"publicationDate":"2020-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/7353452","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25401477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. 与DLX3突变相关的“孤立”无体发育不全:一例临床病例。
Case Reports in Genetics Pub Date : 2020-08-03 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8217919
Anne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, Caroline Silve, Anne-Margaux Collignon, Celine Gaucher
{"title":"\"Isolated\" Amelogenesis Imperfecta Associated with <i>DLX3</i> Mutation: A Clinical Case.","authors":"Anne-Laure Bonnet,&nbsp;Kevin Sceosole,&nbsp;Arabelle Vanderzwalm,&nbsp;Caroline Silve,&nbsp;Anne-Margaux Collignon,&nbsp;Celine Gaucher","doi":"10.1155/2020/8217919","DOIUrl":"https://doi.org/10.1155/2020/8217919","url":null,"abstract":"<p><p>Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity of the enamel. Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain. However, all affect the quality of life because of mechanical, psychological, esthetic, and/or social repercussions. Several gene mutations have been linked to AI as a nonsyndromic (isolated) phenotype or a wider syndrome. This case report aimed to present a family with dental structure anomalies followed up in the dental department of the Louis Mourier Hospital (APHP, France) for their extremely poor dental condition. The proband and his mother were clinically diagnosed with AI, and genetic analysis revealed an already described variant in <i>DLX3</i>. Then, the family was further examined for tricho-dento-osseous syndrome. This report illustrates the challenge of diagnosing dental structure anomalies, specifically AI, in adults and highlights the need for an accurate and accessible molecular diagnosis for those anomalies to discriminate between isolated and syndromic pathologies.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8217919"},"PeriodicalIF":0.0,"publicationDate":"2020-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8217919","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38295796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome. 管理患有satb2相关综合征的学龄前儿童的睡眠和行为问题。
Case Reports in Genetics Pub Date : 2020-07-12 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8868458
Nihit Kumar, Yuri A Zarate
{"title":"Managing Sleep and Behavioral Problems in a Preschooler with <i>SATB2</i>-Associated Syndrome.","authors":"Nihit Kumar,&nbsp;Yuri A Zarate","doi":"10.1155/2020/8868458","DOIUrl":"https://doi.org/10.1155/2020/8868458","url":null,"abstract":"<p><p><i>SATB2</i>-associated syndrome is an autosomal dominant, multisystemic disorder with associated sleep and behavioral abnormalities. Evidence is limited on appropriate management strategies in this population. We describe the medical management of a four-year-old child with poor sleep and significant behavioral problems. After failing initial treatment with melatonin, we initiated treatment clonidine along with high doses of trazodone for sleep. Daytime treatment with quetiapine was added to successfully manage behavioral issues. We present the challenges associated with treatment strategies in children with this syndrome.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8868458"},"PeriodicalIF":0.0,"publicationDate":"2020-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8868458","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38249247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies. 染色体20p部分从头重复鉴定的女性儿童患者的特征性面部畸形和行为异常。
Case Reports in Genetics Pub Date : 2020-07-11 eCollection Date: 2020-01-01 DOI: 10.1155/2020/7093409
Shahzaib Khattak, Meryam Jan, Sara Warsi, Sohail Khattak
{"title":"Chromosome 20p Partial <i>De Novo</i> Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies.","authors":"Shahzaib Khattak,&nbsp;Meryam Jan,&nbsp;Sara Warsi,&nbsp;Sohail Khattak","doi":"10.1155/2020/7093409","DOIUrl":"https://doi.org/10.1155/2020/7093409","url":null,"abstract":"<p><p>Copy number variations (CNVs) involving the <i>JAG1</i> gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a <i>de novo</i> partial duplication involving the <i>JAG1</i> gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in <i>JAG1</i> are often linked to <i>Alagille Syndrome</i>; however, complete duplications have not been specifically identified as disease-causing. <i>JAG1</i> mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"7093409"},"PeriodicalIF":0.0,"publicationDate":"2020-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/7093409","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38220105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature. 由急性蛋白质摄入增加引起的迟发性鸟氨酸转氨基甲酰基酶缺乏症:文献报道的10例回顾
Case Reports in Genetics Pub Date : 2020-04-25 eCollection Date: 2020-01-01 DOI: 10.1155/2020/7024735
E Barkovich, A L Gropman
{"title":"Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature.","authors":"E Barkovich,&nbsp;A L Gropman","doi":"10.1155/2020/7024735","DOIUrl":"https://doi.org/10.1155/2020/7024735","url":null,"abstract":"<p><p>While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake. In this case series, ten such documented cases are reviewed with analysis of patient demographic, protein load, treatment course, and patient outcome. Common delays in treatment include recognition of hyperammonemia as the cause of encephalopathy and initiation of hemodialysis. In only one case was a diet history used to raise suspicion for a metabolic derangement. Metabolic disorders remain an important consideration in adults presenting with encephalopathy not explained by more common etiologies, and recent and remote dietary history may provide valuable information.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"7024735"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/7024735","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37904622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling. 通过蛋白质分子模型表征ABCD1基因致病性变异。
Case Reports in Genetics Pub Date : 2020-01-25 eCollection Date: 2020-01-01 DOI: 10.1155/2020/3256539
John E Richter, Charitha Vadlamudi, Sarah K Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N Mohammad, Stephanie L Hines, Jay A VanGerpen, Paldeep S Atwal, Thomas R Caulfield
{"title":"Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.","authors":"John E Richter,&nbsp;Charitha Vadlamudi,&nbsp;Sarah K Macklin,&nbsp;Ayesha Samreen,&nbsp;Haytham Helmi,&nbsp;Daniel Broderick,&nbsp;Ahmed N Mohammad,&nbsp;Stephanie L Hines,&nbsp;Jay A VanGerpen,&nbsp;Paldeep S Atwal,&nbsp;Thomas R Caulfield","doi":"10.1155/2020/3256539","DOIUrl":"https://doi.org/10.1155/2020/3256539","url":null,"abstract":"<p><strong>Background: </strong>The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of <i>ABCD1</i> cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD). This disorder is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype. For example, the Addison-only form of X-ALD has no neurological impact, while the cerebral form of X-ALD often causes severe sensory loss, motor function impairment, cognitive decline, and death.</p><p><strong>Methods: </strong>A newly characterized and suspected pathogenic variant in <i>ABCD1</i> cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD). This disorder is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype. For example, the Addison-only form of X-ALD has no neurological impact, while the cerebral form of X-ALD often causes severe sensory loss, motor function impairment, cognitive decline, and death.</p><p><strong>Results: </strong>A case of adult onset adrenomyeloneuropathy (AMN) and a novel <i>ABCD1</i> cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD). This disorder is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype. For example, the Addison-only form of X-ALD has no neurological impact, while the cerebral form of X-ALD often causes severe sensory loss, motor function impairment, cognitive decline, and death.</p><p><strong>Conclusions: </strong>Data fusion from multiple sources was combined in a comprehensive approach yielding an enriched assessment of the patient's disease and prognosis. Molecular modeling was performed on the variant to better characterize its clinical significance and confirm pathogenicity.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"3256539"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/3256539","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37635538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20. 与环状染色体 20 患者神经精神运动发育迟缓和癫痫发作有关的候选基因。
Case Reports in Genetics Pub Date : 2020-01-21 eCollection Date: 2020-01-01 DOI: 10.1155/2020/5957415
Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel
{"title":"Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.","authors":"Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel","doi":"10.1155/2020/5957415","DOIUrl":"10.1155/2020/5957415","url":null,"abstract":"<p><p>Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed neuropsychomotor development and language, mild hypotonia, low weight gain, and cognitive deficit. Chromosomal microarray analysis (CMA) enabled us to restrict a chromosomal segment and thus integrate clinical and molecular data with systems biology. With this approach, we were able to identify candidate genes that may help to explain the consequences of deletions in 20q13.33. In our analysis, we observed five hubs (ARFGAP1, HELZ2, COL9A3, PTK6, and EEF1A2), seven bottlenecks (CHRNA4, ARFRP1, GID8, COL9A3, PTK6, ZBTB46, and SRMS), and two H-B nodes (PTK6 and COL9A3). The candidate genes may play an important role in the developmental delay and seizures observed in r20 patients. Gene ontology included microtubule-based movement, nucleosome assembly, DNA repair, and cholinergic synaptic transmission. Defects in these bioprocesses are associated with the development of neurological diseases, intellectual disability, neuropathies, and seizures. Therefore, in this study, we can explore molecular cytogenetic data, identify proteins through network analysis of protein-protein interactions, and identify new candidate genes associated with the main clinical findings in patients with 20q13.33 deletions.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"5957415"},"PeriodicalIF":0.0,"publicationDate":"2020-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37665018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Behçet Disease-Like Symptoms with a Novel COPA Mutation 一种新的COPA突变引起的精神疾病样症状
Case Reports in Genetics Pub Date : 2020-01-11 DOI: 10.1155/2020/8414857
E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman
{"title":"Behçet Disease-Like Symptoms with a Novel COPA Mutation","authors":"E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman","doi":"10.1155/2020/8414857","DOIUrl":"https://doi.org/10.1155/2020/8414857","url":null,"abstract":"COPA syndrome is a recently described autosomal dominant disorder with key immune dysregulation caused by defects within the COPA gene. These mutations lead to endoplasmic reticulum stress and autoimmune response with upregulation of Th17 cytokines. The clinical phenotype of COPA syndrome primarily comprised pulmonary disease, arthritis, and renal disease secondary to immune dysregulation, with onset of symptoms commonly in the first decade of life. Herein, we describe a family with an attenuated Behcet-like phenotype of COPA syndrome, further expanding the phenotypic understanding of this syndrome.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"56 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2020-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89422505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 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. 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
Case Reports in Genetics Pub Date : 2020-01-09 eCollection Date: 2020-01-01 DOI: 10.1155/2020/6143050
Mohammad M Al-Qattan, Zuhair A Rahbeeni, Zuhair N Al-Hassnan, Abdulaziz Jarman, Atif Rafique, Nehal Mahabbat, Faris A S Alsufayan
{"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,&nbsp;Zuhair A Rahbeeni,&nbsp;Zuhair N Al-Hassnan,&nbsp;Abdulaziz Jarman,&nbsp;Atif Rafique,&nbsp;Nehal Mahabbat,&nbsp;Faris A S Alsufayan","doi":"10.1155/2020/6143050","DOIUrl":"https://doi.org/10.1155/2020/6143050","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":"2020 ","pages":"6143050"},"PeriodicalIF":0.0,"publicationDate":"2020-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/6143050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37744893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
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