title: Genetic analysis of familial spontaneous pneumothorax in an Indian family.
abstract: Familial spontaneous pneumothorax is one of the phenotypes of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition associated with folliculin (FLCN). We investigated clinical and genetic data of an Indian family having two patients suffering from spontaneous pneumothorax in the absence of skin lesions or renal tumors. HRCT scan of patient's lung revealed paracardiac cysts, and DNA sequencing of all 14 exons of FLCN from patients showed the presence of heterozygous "C allele" deletion in the poly-cytosine (poly-C) tract of exon 11 leading to truncated folliculin. This mutation was also observed in four asymptomatic members of the family. Our results confirmed the presence of deletion mutation in poly-C tract of FLCN in members of BHDS family. This is the first report of genetic insight in a BHDS family from India but in-depth studies with a larger sample set are necessary to understand mechanism of familial pneumothorax.
authors.affiliation: Human Genetics Unit, Indian Statistical Institute, Kolkata, India.
authors.forename: Anindita
authors.initials: A
authors.lastname: Ray
authors.forename: Suman
authors.initials: S
authors.lastname: Paul
authors.forename: Esita
authors.initials: E
authors.lastname: Chattopadhyay
authors.forename: Susmita
authors.initials: S
authors.lastname: Kundu
authors.forename: Bidyut
authors.initials: B
authors.lastname: Roy
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D007194:India; D008168:Lung / Q000000981:diagnostic imaging / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011030:Pneumothorax / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012129:Respiratory Function Tests; D017384:Sequence Deletion; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D005819:Genetic Markers; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
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