Tags

Type your tag names separated by a space and hit enter

Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.
J Med Genet. 2007 Sep; 44(9):588-93.JM

Abstract

RATIONALE

Birt-Hogg-Dubé (BHD) syndrome, a rare inherited autosomal genodermatosis first recognised in 1977, is characterised by fibrofolliculomas of the skin, an increased risk of renal tumours and multiple lung cysts with spontaneous pneumothorax. The BHD gene, a tumour suppressor gene located at chromosome 17p11.2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures of the disease may be variable and may not always present the full expression of the phenotypes.

OBJECTIVES

We hypothesised that mutations of the BHD gene are responsible for patients who have multiple lung cysts of which the underlying causes have not yet been elucidated.

METHODS

We studied eight patients with lung cysts, without skin and renal disease; seven of these patients have a history of spontaneous pneumothorax and five have a family history of pneumothorax. The BHD gene was examined using PCR, denaturing high-performance liquid chromatography and direct sequencing.

MAIN RESULTS

We found that five of the eight patients had a BHD germline mutation. All mutations were unique and four of them were novel, including three different deletions or insertions detected in exons 6, 12 and 13, respectively and one splice acceptor site mutation in intron 5 resulting in an in-frame deletion of exon 6.

CONCLUSIONS

We found that germline mutations of the BHD gene are involved in some patients with multiple lung cysts and pneumothorax. Pulmonologists should be aware that BHD syndrome can occur as an isolated phenotype with pulmonary involvement.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Letter
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17496196

Citation

Gunji, Yoko, et al. "Mutations of the Birt Hogg Dube Gene in Patients With Multiple Lung Cysts and Recurrent Pneumothorax." Journal of Medical Genetics, vol. 44, no. 9, 2007, pp. 588-93.
Gunji Y, Akiyoshi T, Sato T, et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet. 2007;44(9):588-93.
Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., & Seyama, K. (2007). Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. Journal of Medical Genetics, 44(9), 588-93.
Gunji Y, et al. Mutations of the Birt Hogg Dube Gene in Patients With Multiple Lung Cysts and Recurrent Pneumothorax. J Med Genet. 2007;44(9):588-93. PubMed PMID: 17496196.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. AU - Gunji,Yoko, AU - Akiyoshi,Taeko, AU - Sato,Teruhiko, AU - Kurihara,Masatoshi, AU - Tominaga,Shigeru, AU - Takahashi,Kazuhisa, AU - Seyama,Kuniaki, Y1 - 2007/05/11/ PY - 2007/5/15/pubmed PY - 2007/10/10/medline PY - 2007/5/15/entrez SP - 588 EP - 93 JF - Journal of medical genetics JO - J Med Genet VL - 44 IS - 9 N2 - RATIONALE: Birt-Hogg-Dubé (BHD) syndrome, a rare inherited autosomal genodermatosis first recognised in 1977, is characterised by fibrofolliculomas of the skin, an increased risk of renal tumours and multiple lung cysts with spontaneous pneumothorax. The BHD gene, a tumour suppressor gene located at chromosome 17p11.2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures of the disease may be variable and may not always present the full expression of the phenotypes. OBJECTIVES: We hypothesised that mutations of the BHD gene are responsible for patients who have multiple lung cysts of which the underlying causes have not yet been elucidated. METHODS: We studied eight patients with lung cysts, without skin and renal disease; seven of these patients have a history of spontaneous pneumothorax and five have a family history of pneumothorax. The BHD gene was examined using PCR, denaturing high-performance liquid chromatography and direct sequencing. MAIN RESULTS: We found that five of the eight patients had a BHD germline mutation. All mutations were unique and four of them were novel, including three different deletions or insertions detected in exons 6, 12 and 13, respectively and one splice acceptor site mutation in intron 5 resulting in an in-frame deletion of exon 6. CONCLUSIONS: We found that germline mutations of the BHD gene are involved in some patients with multiple lung cysts and pneumothorax. Pulmonologists should be aware that BHD syndrome can occur as an isolated phenotype with pulmonary involvement. SN - 1468-6244 UR - https://www.unboundmedicine.com/medline/citation/17496196/Mutations_of_the_Birt_Hogg_Dube_gene_in_patients_with_multiple_lung_cysts_and_recurrent_pneumothorax_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=17496196 DB - PRIME DP - Unbound Medicine ER -