New genes discovered for Jeune syndrome | Action Medical Research

New genes discovered for Jeune syndrome

8 November 2013

Three new genes causing Jeune syndrome, a rare and incurable hereditary condition, have been discovered. Two of the three discoveries are published this week in the American Journal of Human Genetics.

Little is known about the condition, affecting bone development and causing severe breathing difficulties in children, so the findings will help improve genetic testing and could lead to better treatments.

Researchers had already identified some genetic changes that can cause the condition but not many sufferers carry these. So, the children’s charity Action Medical Research awarded a prestigious Research Training Fellowship grant to Dr Miriam Schmidts, working with Dr Hannah Mitchison, Professor Philip Beales and Professor Peter Scambler at the Institute of Child Health, London, to search for more genetic causes.

Babies with Jeune syndrome are born with short arms and legs and an unusually narrow ribcage. Jeune syndrome is inherited but in many cases the diagnosis comes as a shock as parents are often unaware they are carrying a gene for the condition.

Evidence suggests those with the disease – an estimated 600 people in the UK – have cilia (the hair-like structures on cells that help bone growth) that do not work properly.

Some babies require a ventilator to help them breathe. Sadly, some babies lose their lives because their lungs are too small, and those who survive face ongoing difficulties needing complex surgery or frequent hospital stays. Children with the syndrome can have problems with their liver, kidneys or eyesight, for example, and some have more than five fingers or toes.

Dr Schmidts and co-authors from Australia and the US reveal, in the papers published in the American Journal of Human Genetics1,2,3 , the links with Jeune syndrome and the three genes known as WDR60, WDR34 and IFT172.

Co-author Professor Emma Duncan, who was also previously awarded a Research Training Fellowship by Action Medical Research, comments:  "As well as the clinical discoveries from this research, this project highlights the key role the charity plays in contributing to vital medical research and medical research careers.  The charity’s invaluable funding has meant we now have an international collaboration with outstanding outcomes for patients and their families.  This is a wonderful story of how from small steps, great breakthroughs can grow.”

The WDR34 gene now appears to be the second most common cause of Jeune syndrome, after the gene DYNC2H14 which Dr Schmidts also investigated earlier in the year. Previously, little was known about the function of both genes WDR34 and WDR60 in mammals.

The third gene, IFT172, occurs in a specific group of patients with kidney and liver disease which has been observed in a similar pattern for another IFT-gene, IFT140. These findings are important for future clinical care, and will help to predict the course of the condition.

Dr Schmidts said: “I know how difficult long-term illness can be during childhood – for the entire family – and how frustrating it is for parents if their child suffers from an illness that is poorly understood. Jeune syndrome has been poorly understood, which has severely limited treatment options. By boosting understanding, the recent findings from this project funded by could really help families with the condition.”

Families affected by Jeune Syndrome and related ciliary skeletal disease can contact the Jeune Syndrome Family Foundation for advice and support:

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  1. McInerney-Leo AM, Schmidts M, Cortes CR, et al. Short-rib polydactlyly and Jeune syndromes are caused by mutations in WDR60. AJHG 2013: 93; 1-9.
  2. Halbritter J, Bizet AA, Schmidts M, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. AJHG 93, 7 November 2013.
  3. Schmidts M, Vodopiutz J, Christou-Savina S, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. AJHG 93; 7 November 2013.
  4. Schmidts M, Arts HH, Bongers EM, et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23.
  5. Schmidts M, Frank V, Eisenberger T, et al. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.Hum Mutat. 2013 May;34(5):714-24.

For further information please contact:

Toni Slater, Communications Manager
T: 01403 327478

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Action Medical Research is a UK-wide charity saving and changing children’s lives through medical research. We want to make a difference in:

  • tackling premature birth and treating sick and vulnerable babies
  • helping children affected by disability, disabling conditions and infections
  • targeting rare diseases that together severely affect many forgotten children.

Just one breakthrough, however small, can mean the world.

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