The 'Bearded Lady' Genetic Mutation Decoded

Julia Pastrana became famous as the "bearded lady" in the mid-1800s. Now, more than 150 years later, scientists have discovered the genetic mutations responsible for her rare condition.

The disorder, known as congenital generalized hypertrichosis terminalis (CGHT) with gingival hypertrophy, is characterized by excessive growth of dark hairs all over the body , distorted facial features, and enlarged gums. In some cases, people can have CGHT with normal gums. All of these diseases fall into a group of conditions called congenital generalized hypertrichosis (CGH). The disease is difficult to study because it is so rare.

After analyzing the genomes of members of three Chinese families with CGHT and one person with CGHT and gingival hyperplasia, researchers pinpointed the genetic defects to chromosome 17.

In the three families, members had DNA deletions on this chromosome, meaning they were missing pieces in their genes. On the other hand, the individual with enlarged gums had extra pieces of DNA, called DNA duplications, a type of mutation in which sequences of DNA appear multiple times. These genetic abnormalities affected four to eight genes on chromosome 17.

"Although it has long been believed that most people with CGH have some kind of genetic defect, the specific genetic mutations that underlie CGHT, with or without gingival hyperplasia, had not been discovered until now," Xue Zhang, the lead study author from the Chinese Academy of Medical Sciences and Peking Union Medical College in Beijing, said in a statement.

Future studies will try to find the mechanism by which these mutations lead to the disorder, Zhang said. The research is detailed in the May 21 issue of the American Journal of Human Genetics.

"The Bearded Lady"

Julia Pastrana (1834-1860) was a Mexican-born woman with hypertrichosis who exhibited herself in 19th-century Europe.

Julia Pastrana, a Mexican Indian, was born in 1834. She had hypertrichosis terminalis; that is, her face and body were covered with straight black hair. Her ears and nose were unusually large and her teeth were irregular.

Theodor Lent discovered her and purchased her from a woman who might have been her mother. Lent taught her to dance and play music and took her on a worldwide tour with the name "Bearded and Hairy Lady". She also learned to read and write in three languages. Eventually they were married and she became pregnant.

During a tour in Moscow, Pastrana gave birth to a baby with features similar to her own. The child survived only three days, and Pastrana died of post-birth complications soon after.

Lent did not abandon the tour; he contacted a Russian professor named Sokoloff, had his wife and the child mummified and displayed them in a glass cabinet. He eventually found another woman with similar features, married her and named her Zenora Pastrana. He was eventually committed to a mental institution.

The mummies disappeared from the public view. They appeared in Norway in 1921 and were on display until the 1970s when the Norwegian government threatened confiscation if they were not withdrawn from the public. The mummies were stolen in 1979 but later recovered and stored at the Oslo Forensic Institute where they were rediscovered in 1990.

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