Genetic analysis of BHD syndrome in an Indian Family

Ray et al., 2015 report the first genetic analysis of a family in India with BHD. The report details the genetic sequencing of folliculin in a three generation family containing two siblings with a history of spontaneous pneumothorax. Dermatological examination and abdominal CT scans determined no evidence of fibrofolliculomas or renal tumours in the family. The affected siblings, their mother, two other siblings and one index patient’s son were found to carry a deletion in the poly-cytosine tract in exon 11. Pulmonary cysts were confirmed in the asymptomatic adults but not seen in the son (13 years old). The authors suggest the existence of other mutations that can explain phenotype differences in patients.

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