Primary spontaneous pneumothorax (PSP) is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by germline mutations of the FLCN gene. There are different types of mutations in FLCN gene and, in addition, patients with PSP should also be screened for mutations in FBN1, COL3A1, CBS, SERPINA1 and TSC1/2 genes which makes the diagnostic procedure complicated and time-consuming. In a new study, Zhang et al. (2016) developed a next generation sequencing (NGS)-based method using Haloplex target enrichment as an easier diagnostic tool. The method successfully detected simultaneously exonic and intronic single-nucleotide variants (SNVs), small indels, large intragenic deletions and determined deletion junctions in all PSP-related genes. The group concluded that the system has a more extensive performance than the commonly used Sanger sequencing and Multiple Ligation-dependent Probe Amplification (MLPA) and a cost analysis showed significant savings using this time-effective and accurate screening system for the molecular diagnosis of BHDS in PSP patients.
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