Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

PloS one - 1 Jan 2022

Lagerstedt-Robinson Kristina, Baranowska Körberg Izabella, Tsiaprazis Stefanos, Björck Erik, Tham Emma, Poluha Anna, Hellström Pigg Maritta, Paulsson-Karlsson Ylva, Nordenskjöld Magnus, Johansson-Soller Maria, Aravidis Christos

Abstract excerpt

Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with BHDS present with three distinct symptoms: fibrofolliculomas, pneumothorax due to lung cyst formation, and increased lifetime risk of kidney tumours. The aim of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Birt-Hogg-Dube Syndrome
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Proto-Oncogene Proteins

Share to Sweden

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 35176117
DOI: 10.1371/journal.pone.0264056
PMCID: PMC8853502

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.PMID 35176117Read ↗

Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.Semantic proximity Read ↗

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.Semantic proximity Read ↗

Genetic Insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations in <i>FLCN</i>Semantic proximity Read ↗

Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dub� syndrome from genomics and population cohortsSemantic proximity Read ↗

Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.Semantic proximity Read ↗

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.Semantic proximity Read ↗

Birt‐Hogg‐Dubé syndrome: an underdiagnosed genetic tumor syndromeSemantic proximity Read ↗

A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.Semantic proximity Read ↗

Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.Semantic proximity Read ↗

First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.Semantic proximity Read ↗

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patientsSemantic proximity Read ↗

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.