BHD Mutations and Clinical Features in Birt–Hogg–Dubé Syndrome
Author Information
Author(s): Toro J R, Wei M-H, Glenn G M, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino M J, Pinto P A, Steinberg S M, Schmidt L S, Linehan W M
Primary Institution: National Cancer Institute, National Institutes of Health
Hypothesis
To characterize the BHD mutation spectrum, novel mutations, and new clinical features of one previously reported and 50 new families with BHDS.
Conclusion
BHDS is characterized by a spectrum of mutations and clinical heterogeneity both among and within families.
Supporting Evidence
- The BHD mutation detection rate was 88% (51/58).
- Of the 23 different germline mutations identified, 13 were novel.
- Patients with a germline BHD mutation and family history of kidney cancer had a statistically significantly increased probability of developing renal tumours compared to patients without a positive family history (p=0.0032).
- Patients with a BHD germline mutation and family history of spontaneous pneumothorax had a significantly increased probability of having spontaneous pneumothorax than BHDS patients without a family history of spontaneous pneumothorax (p=0.011).
Takeaway
Birt–Hogg–Dubé syndrome is a genetic condition that can cause skin growths, lung problems, and kidney tumors, and researchers found many new mutations related to this syndrome.
Methodology
Direct bidirectional DNA sequencing was used to screen for mutations in the BHD gene, and insertion and deletion mutations were confirmed by subcloning.
Limitations
The dataset is too small to examine genotype–phenotype correlations rigorously.
Participant Demographics
The cohort included 89 individuals from 51 families with BHD mutations, consisting of 37 men and 52 women with a median age of 54 years.
Statistical Information
P-Value
0.0032
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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