评估尼曼-皮克病患者的遗传背景

IF 1.6 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Fatemeh Alipouran, Ehsan Ghayoor Karimiani, Jina Khayatzadeh
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引用次数: 0

摘要

背景:先天性肝病从临床遗传学角度看是一组异质性疾病。最重要的特征是肝脾肿大和肝酶升高。本研究旨在利用分子技术在三个伊朗先天性肝病家族中鉴定导致该疾病的遗传变异:方法:患者经消化科医生确诊为先天性肝病后,被转诊至马什哈德的下一代遗传诊所(NGGC)。在签署知情同意书后,从血液样本中提取 DNA。对三名患者进行了全外显子组测序(WES)。对原始数据进行分析后,确认了患者及其父母的候选变异:结果:我们在 F-1 患者的 SMPD1 基因中发现了可能的致病变异 c.1718G>C(p. Trp573Ser),在 F-3 患者的 SMPD1 基因中发现了 c.1718G>C(p. Trp573Ser)。此外,我们还在F-2患者的NPC1基因中发现了c.3175C>T变异(p. Arg1059Ter):结论:本研究发现了三名疑似尼曼-皮克病患者的致病变体。这些结果表明,分子技术在协助临床医生进行疾病管理、治疗策略和预防方案(如植入前遗传学诊断和产前诊断)方面具有相对较高的能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Reports of Biochemistry and Molecular Biology
Reports of Biochemistry and Molecular Biology BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
2.80
自引率
23.50%
发文量
60
审稿时长
10 weeks
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.
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