Fatemeh Alipouran, Ehsan Ghayoor Karimiani, Jina Khayatzadeh
{"title":"评估尼曼-皮克病患者的遗传背景","authors":"Fatemeh Alipouran, Ehsan Ghayoor Karimiani, Jina Khayatzadeh","doi":"10.61186/rbmb.12.3.386","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Congenital liver disease refers to a group of heterogeneous diseases from a clinical genetic point of view. The most crucial features are hepatosplenomegaly and elevated liver enzymes. This study aims to identify genetic variants causing the disease in three Iranian families with congenital liver disease using molecular techniques.</p><p><strong>Methods: </strong>Patients were referred to Next Generation Genetic Polyclinic (NGGC) in Mashhad after confirmed congenital liver disease diagnosis by gastroenterologists. Following informed consent signed by participants, DNA was extracted from blood samples. Whole exome sequencing (WES) was performed for three probands. After the analysis of raw data, candidate variants were confirmed in the patients and their parents.</p><p><strong>Results: </strong>We have found the possible disease-causing variant as the c.1718G>C variant (p. Trp573Ser) in the SMPD1 gene in the F-1 patient and c.1718G>C (p. Trp573Ser) in the SMPD1 gene in the F-3 patient. Moreover, we have found the c.3175C>T variant (p. Arg1059Ter) in the NPC1 gene in the F-2 patient.</p><p><strong>Conclusions: </strong>In this study, disease-causing variants were identified in three probands suspected of Niemann-Pick disease. Such results show the relatively high power of molecular techniques to assist clinicians with disease management, therapeutic strategies, and preventive options such as preimplantation genetic diagnosis and prenatal diagnosis.</p>","PeriodicalId":45319,"journal":{"name":"Reports of Biochemistry and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015928/pdf/","citationCount":"0","resultStr":"{\"title\":\"Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.\",\"authors\":\"Fatemeh Alipouran, Ehsan Ghayoor Karimiani, Jina Khayatzadeh\",\"doi\":\"10.61186/rbmb.12.3.386\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Congenital liver disease refers to a group of heterogeneous diseases from a clinical genetic point of view. The most crucial features are hepatosplenomegaly and elevated liver enzymes. This study aims to identify genetic variants causing the disease in three Iranian families with congenital liver disease using molecular techniques.</p><p><strong>Methods: </strong>Patients were referred to Next Generation Genetic Polyclinic (NGGC) in Mashhad after confirmed congenital liver disease diagnosis by gastroenterologists. Following informed consent signed by participants, DNA was extracted from blood samples. Whole exome sequencing (WES) was performed for three probands. After the analysis of raw data, candidate variants were confirmed in the patients and their parents.</p><p><strong>Results: </strong>We have found the possible disease-causing variant as the c.1718G>C variant (p. Trp573Ser) in the SMPD1 gene in the F-1 patient and c.1718G>C (p. Trp573Ser) in the SMPD1 gene in the F-3 patient. Moreover, we have found the c.3175C>T variant (p. Arg1059Ter) in the NPC1 gene in the F-2 patient.</p><p><strong>Conclusions: </strong>In this study, disease-causing variants were identified in three probands suspected of Niemann-Pick disease. Such results show the relatively high power of molecular techniques to assist clinicians with disease management, therapeutic strategies, and preventive options such as preimplantation genetic diagnosis and prenatal diagnosis.</p>\",\"PeriodicalId\":45319,\"journal\":{\"name\":\"Reports of Biochemistry and Molecular Biology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015928/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reports of Biochemistry and Molecular Biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.61186/rbmb.12.3.386\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reports of Biochemistry and Molecular Biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.61186/rbmb.12.3.386","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Background: Congenital liver disease refers to a group of heterogeneous diseases from a clinical genetic point of view. The most crucial features are hepatosplenomegaly and elevated liver enzymes. This study aims to identify genetic variants causing the disease in three Iranian families with congenital liver disease using molecular techniques.
Methods: Patients were referred to Next Generation Genetic Polyclinic (NGGC) in Mashhad after confirmed congenital liver disease diagnosis by gastroenterologists. Following informed consent signed by participants, DNA was extracted from blood samples. Whole exome sequencing (WES) was performed for three probands. After the analysis of raw data, candidate variants were confirmed in the patients and their parents.
Results: We have found the possible disease-causing variant as the c.1718G>C variant (p. Trp573Ser) in the SMPD1 gene in the F-1 patient and c.1718G>C (p. Trp573Ser) in the SMPD1 gene in the F-3 patient. Moreover, we have found the c.3175C>T variant (p. Arg1059Ter) in the NPC1 gene in the F-2 patient.
Conclusions: In this study, disease-causing variants were identified in three probands suspected of Niemann-Pick disease. Such results show the relatively high power of molecular techniques to assist clinicians with disease management, therapeutic strategies, and preventive options such as preimplantation genetic diagnosis and prenatal diagnosis.
期刊介绍:
The Reports of Biochemistry & Molecular Biology (RBMB) is the official journal of the Varastegan Institute for Medical Sciences and is dedicated to furthering international exchange of medical and biomedical science experience and opinion and a platform for worldwide dissemination. The RBMB is a medical journal that gives special emphasis to biochemical research and molecular biology studies. The Journal invites original and review articles, short communications, reports on experiments and clinical cases, and case reports containing new insights into any aspect of biochemistry and molecular biology that are not published or being considered for publication elsewhere. Publications are accepted in the form of reports of original research, brief communications, case reports, structured reviews, editorials, commentaries, views and perspectives, letters to authors, book reviews, resources, news, and event agenda.