A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-07-01 DOI:10.1002/mgg3.2488

He Miao, Yulin Zhou, Silun Ge, Yufeng Gu, Le Qu, Wenquan Zhou, Haowei He

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Abstract

Background: This study aimed to identify disease-causing variants within a Chinese family affected by Birt-Hogg-Dubé syndrome (BHDS), which arises from an autosomal dominant inheritance pattern attributed to variants in the folliculin (FLCN) gene, recognized as a tumor suppressor gene.

Methods: A Chinese proband diagnosed with BHDS due to renal tumors underwent next-generation sequencing (NGS), revealing a novel variant in the FLCN gene. Sanger sequencing was subsequently performed on blood samples obtained from family members to confirm the presence of this variant.

Results: A novel germline frameshift variant (NM_144997.5:c.977dup) was identified in five individuals among the screened family members, marking the first report of this variant. Additionally, a somatic frameshift variant (NM_144997.5:c.1252del) was detected in the renal tumors of the proband. No variant was detected in unaffected family members.

Conclusions: A novel heterozygous variant was identified in exon 9 of the FLCN gene, which broadens the spectrum of FLCN variants. We recommend that molecular analysis of the FLCN gene be performed in patients with suspected BHDS and their families.

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一个中国 Birt-Hogg-Dubé 综合征家族中的 FLCN 基因新变异。

研究背景BHDS是一种常染色体显性遗传模式，由被认为是肿瘤抑制基因的蓇葖果素（FLCN）基因变异引起：一名因肾脏肿瘤而被诊断为 BHDS 的中国原发性患者接受了新一代测序（NGS），发现了 FLCN 基因中的一个新型变异。随后对家庭成员的血液样本进行了桑格测序，以确认该变异的存在：结果：在筛查出的家庭成员中，有五名个体发现了一个新型生殖系框移变异体（NM_144997.5:c.977dup），这也是该变异体的首次报告。此外，还在该患者的肾脏肿瘤中检测到一个体细胞框架移位变体（NM_144997.5:c.1252del）。在未受影响的家庭成员中未发现变异：结论：在FLCN基因第9外显子中发现了一个新的杂合变异体，这扩大了FLCN变异体的范围。我们建议对疑似 BHDS 患者及其家属进行 FLCN 基因分子分析。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.