{"title":"全外显子组测序实现了一个巴林家族Kaufman眼脑面综合征的明确诊断:一例报告。","authors":"Mariam Fida, Israa Sinan, Alan Finan","doi":"10.1177/11795565231200130","DOIUrl":null,"url":null,"abstract":"<p><p>A 1 year and 7 months old girl presented to the medical genetic clinic as a referral from the pediatrics clinic. Upon examining the patient and assessing past medical history, an autosomal recessive disorder was suspected. The family underwent whole exome sequencing, which resulted in the diagnosis of Kaufman oculocerebrofacial syndrome (OMIM #244450) in the patient due to the fact that both parents were heterozygous carriers of a novel pathogenic variant in the gene <i>UBE3B</i> that lies on 12q24. It has been recommended for the family that preimplantation genetic testing should be considered for future pregnancies. In this case report, we present a novel variant of the gene and highlight the support of whole exome sequencing in the unveiling of genetic disorders.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7000,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/02/10.1177_11795565231200130.PMC10515509.pdf","citationCount":"0","resultStr":"{\"title\":\"Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report.\",\"authors\":\"Mariam Fida, Israa Sinan, Alan Finan\",\"doi\":\"10.1177/11795565231200130\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 1 year and 7 months old girl presented to the medical genetic clinic as a referral from the pediatrics clinic. Upon examining the patient and assessing past medical history, an autosomal recessive disorder was suspected. The family underwent whole exome sequencing, which resulted in the diagnosis of Kaufman oculocerebrofacial syndrome (OMIM #244450) in the patient due to the fact that both parents were heterozygous carriers of a novel pathogenic variant in the gene <i>UBE3B</i> that lies on 12q24. It has been recommended for the family that preimplantation genetic testing should be considered for future pregnancies. In this case report, we present a novel variant of the gene and highlight the support of whole exome sequencing in the unveiling of genetic disorders.</p>\",\"PeriodicalId\":45027,\"journal\":{\"name\":\"Clinical Medicine Insights-Pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2023-09-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/02/10.1177_11795565231200130.PMC10515509.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine Insights-Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/11795565231200130\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine Insights-Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/11795565231200130","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
摘要
A 1 第7年 一个月大的女孩从儿科诊所转诊到医学遗传诊所。在检查患者并评估其既往病史后,怀疑其为常染色体隐性遗传疾病。该家族接受了全外显子组测序,这导致该患者被诊断为考夫曼眼脑面综合征(OMIM#2244450),因为父母都是位于12q24的基因UBE3B中一种新的致病性变体的杂合携带者。有人建议该家族在未来怀孕时应考虑植入前基因检测。在这个病例报告中,我们提出了一种新的基因变体,并强调了全外显子组测序在揭示遗传疾病中的支持。
Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report.
A 1 year and 7 months old girl presented to the medical genetic clinic as a referral from the pediatrics clinic. Upon examining the patient and assessing past medical history, an autosomal recessive disorder was suspected. The family underwent whole exome sequencing, which resulted in the diagnosis of Kaufman oculocerebrofacial syndrome (OMIM #244450) in the patient due to the fact that both parents were heterozygous carriers of a novel pathogenic variant in the gene UBE3B that lies on 12q24. It has been recommended for the family that preimplantation genetic testing should be considered for future pregnancies. In this case report, we present a novel variant of the gene and highlight the support of whole exome sequencing in the unveiling of genetic disorders.