{"title":"史密斯-莱姆利-奥皮茨综合症:波斯尼亚和黑塞哥维那的经验。","authors":"N Begic, Z Begic, E Begic","doi":"10.2478/bjmg-2021-0002","DOIUrl":null,"url":null,"abstract":"<p><p>The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (<i>DHCR7</i>) gene have been determined: missense variant <i>1)</i> NM_001360.2: c.470T>C (p.Leu157Pro) and <i>2)</i> nonsense variant c.452G>A (W151*). Therefore the <i>DHCR7</i> genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/e2/bjmg-24-099.PMC8366476.pdf","citationCount":"3","resultStr":"{\"title\":\"Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.\",\"authors\":\"N Begic, Z Begic, E Begic\",\"doi\":\"10.2478/bjmg-2021-0002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (<i>DHCR7</i>) gene have been determined: missense variant <i>1)</i> NM_001360.2: c.470T>C (p.Leu157Pro) and <i>2)</i> nonsense variant c.452G>A (W151*). Therefore the <i>DHCR7</i> genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.</p>\",\"PeriodicalId\":55403,\"journal\":{\"name\":\"Balkan Journal of Medical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2021-07-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/e2/bjmg-24-099.PMC8366476.pdf\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Balkan Journal of Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2478/bjmg-2021-0002\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/6/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Balkan Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/bjmg-2021-0002","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/6/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.
期刊介绍：
Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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