Genes behind “Bearded Lady” Syndrome discovered
May 21, 2009 by Grace Ibay
Filed under Health
Otherwise known as the Victorian Ape Woman, “Bearded Lady” Julia Pastrana was a circus act in 19th century Europe. Hers was an extremely rare genetic syndrome that baffled and fascinated the public since she was first exhibited by her husband.
Pastrana has a genetic syndrome known as hypertrichosis terminalis where straight coarse hair covered her entire face and body, and her teeth and gums were irregular.
"Bearded Lady" Julia Pastrana has rare genetic condition. Image: Public Domain
New research released Thursday uncovered the exact genetic mutation responsible for conditions similar to Pastrana’s. Published in the May 12st issue of the American Journal of Human Genetics, the study looked into three large Chinese Han families with autosomal-dominant congenital generalized hypertrichosis terminalis (CGHT), whose features were similar to the Bearded Lady in that excessive hair grew all over the body. The team also studied an individual with a sporadic case of extreme CGHT and gingival hyperplasia (overgrowth of gum tissue).
Led by Dr. Xue Zhang from the Chinese Academy of Medical Sciences, the team localized the genetic mutations on 17q24.2-q24.3. They also found that multiple copies of DNA were deleted in all members of the families that were affected with the condition. On the other hand, micro-duplications were found in the one sporadic case.
Source: American Journal of Human Genetics doi: 10.1016/j.ajhg.2009.04.018
Image: Public Domain/Wikipedia
