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New cause identified for children, adults with joint, skeletal, skin problems

Date:
January 24, 2014
Source:
Manchester University
Summary:
Scientists have identified the cause of a rare condition called Leri's pleonosteosis (LP). LP is an inherited condition in which children are born with contractures of multiple joints and then develop difficulty of joint movements that progress in severity with age. The research team showed that extra genetic material on chromosome number 8 caused the condition in two families from Manchester.

Scientists from The University of Manchester and Central Manchester University Hospitals NHS Foundation Trust have identified the cause of a rare condition called Leri's pleonosteosis (LP).

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Dr Sid Banka from the Manchester Centre for Genomic Medicine at The University of Manchester, led a team of researchers on the study which is published in Annals of Rheumatic Diseases journal.

LP is an inherited condition in which children are born with contractures of multiple joints and then develop difficulty of joint movements that progress in severity with age. The research team showed that extra genetic material on chromosome number 8 caused the condition in two families from Manchester.

Some patients with LP also develop thickening of their skin, similar to that seen in patients with a more common disorder called scleroderma.

Using their new knowledge, the research team showed that the genetic cause of LP is linked to whether people get scleroderma or not. This work opens opportunities to understand scleroderma and explore new treatments.


Story Source:

The above story is based on materials provided by Manchester University. Note: Materials may be edited for content and length.


Journal Reference:

  1. Sid Banka et al. Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Annals of Rheumatic Diseases, January 2014

Cite This Page:

Manchester University. "New cause identified for children, adults with joint, skeletal, skin problems." ScienceDaily. ScienceDaily, 24 January 2014. <www.sciencedaily.com/releases/2014/01/140124082606.htm>.
Manchester University. (2014, January 24). New cause identified for children, adults with joint, skeletal, skin problems. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2014/01/140124082606.htm
Manchester University. "New cause identified for children, adults with joint, skeletal, skin problems." ScienceDaily. www.sciencedaily.com/releases/2014/01/140124082606.htm (accessed October 25, 2014).

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