2011 Release: NIH researchers identify gene variant in Proteus syndrome

Proteus Syndrome Announcement

Leslie Biesecker (left) and Larry Thompson at the telebriefing

Background materials are available, below, for the announcement of the discovery of the mutation that causes Proteus Syndrome.  The findings are published in the July 27, 2011 early online edition of The New England Journal of Medicine.

Background Materials

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Last Updated: February 27, 2013


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Comments:

  • Mae Stroshane (December 6, 2012, 07:16)

    I'm very glad to know this. Readers might be interested to know there is a new biography of Joseph Merrick It features new research on Joseph AND interviews with Tracey and Jordan Whitewood-Neal, Lisa Bartlett, Brian Richards, and Dr. Leslie Biesecker. "Measured by the Soul: The Life of Joseph Carey Merrick," by Jeanette Sitton and Mae Siu-Wai Stroshane at Lulu(dot)com

  • sharon (August 17, 2012, 14:39)

    My 32 year old son John died on September 10, 2010 due to pulmonary complications caused by Proteus Syndrome. I wish the identification of the mutant gene which caused this condition had occurred earlier enough to help my child. John has a two year old son who we are told is being followed medically. While his mother says the baby shows no signs of Proteus's abnormalities yet, from photographs, I believe several of his little fingers look like John's did at the same age. I'm afraid his little boy will have to undergo the same trials John did: amputations, skull surgery, vein abnormalities, discrepancies in leg lengths,and more.

  • faithangela (April 15, 2012, 11:59)

    What a gift Joseph Merrick gave us through his short life! He not only affected the culture of his age by demonstrating that a person's outward appearance has nothing to do with his inner person but he also brought attention to a rare disorder that has now been traced to its origin. Bravo to the scientists and medical researchers who have accomplished this. Bravo to the children and adults who live with it and those nearest to them. Their courage and fortitude are incredible! Hopefully, a prevention and cure are soon to follow this new discovery.

  • Jeannette Villalobos (October 25, 2011, 23:25)

    I know a child with this condition. I am very happy about this good news!!

  • wendy (October 14, 2011, 09:16)

    I have a child, her name is Tori. She is 9 yrs old. She has proteus syndrome. I am so happy to hear about the cure.

  • ED H (August 26, 2011, 07:38)

    Being in the health care business since 1980, topics like this are always of interest to me. Slowly, insurers are starting to add benefits that help for these expenses. The trend should continue.

  • John en Christel (August 21, 2011, 15:42)

    We have a son called Ivo. He is 21 years old, and has a combination Proteus syndrome with Tubereuze Sclerosis. Very nice to hear that they finally found the Proteus gene. Much greetings from Holland

  • Jacqui Wan (July 28, 2011, 18:52)

    This is a very emotional time for all Proteus Syndrome Foundation families. My brother, Matthew Baines, had Proteus Syndrome and passed away in 1999 at the age of 25. This news is both happy and sad for us. Just today a friend remarked that Matthew was the most kindest and charming person she had ever met. I want to thank the whole team for your hard work and determination in getting to this historical moment! Baines family. Australia.

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