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BMC Medical Genetics

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Open Access 01-12-2018 | Research article

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

Authors: Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang

Published in: BMC Medical Genetics | Issue 1/2018

Abstract

Background

Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.

Methods

Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families.

Results

In this study, we performed genetic analysis by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations in two Chinese families. Patients from family 1 mostly suffered from pneumothorax and pulmonary cysts, several of whom also mentioned skin lesions or kidney lesions. While in family 2, only thoracic lesions were found in the patients, without any other clinical manifestations. Two FLCN mutations have been identified: One is an insertion mutation (c.1579_1580insA/p.R527Xfs on exon 14) previously reported in three Asian families (one mainland family and two Taiwanese families); while the other is a firstly reviewed mutation in Asian population (c.649C > T / p.Gln217X on exon 7) that ever been detected in a French family.

Conclusions

Overall, The detection of these two mutations expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of Birt-Hogg-Dubé syndrome.

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Title: Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
Authors: Xiaocan Hou
Yuan Zhou
Yun Peng
Rong Qiu
Kun Xia
Beisha Tang
Wei Zhuang
Hong Jiang
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-017-0519-z

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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