A Novel Variant in the FLCN Gene in a Chinese Family with Birt-Hogg-Dubé Syndrome

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2024 Jul 4

PMID 38963008

Authors

He Miao

Yulin Zhou

Silun Ge

Yufeng Gu

Le Qu

Wenquan Zhou

Haowei He

Affiliations

Soon will be listed here.

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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