Genetic insight into Birt-Hogg-Dube syndrome in Indian patients reveals novel mutations at FLCN.

ABSTRACT:

Background

Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), skin fibrofolliculomas and renal carcinoma (chromophobe). Here, we comprehensively studied the mutational background of 31 clinically diagnosed BHDS patients and their 74 asymptomatic related members from 15 Indian families.

Results

Targeted amplicon next-generation sequencing (NGS) and Sanger sequencing of FLCN in patients and asymptomatic members revealed a total of 76 variants. Among these variants, six different types of pathogenic FLCN mutations were detected in 26 patients and some asymptomatic family members. Two of the variants were novel mutations

SUBMITTER: Ray A 

PROVIDER: S-EPMC9044636 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature