Learn About Perrault Syndrome

What is the definition of Perrault Syndrome?

Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.

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What are the causes of Perrault Syndrome?

Perrault syndrome has several genetic causes. TWNK, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including TWNK, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Although the effect of these gene mutations on mitochondrial function is unknown, researchers speculate that disruption of mitochondrial energy production could underlie the signs and symptoms of Perrault syndrome.

How prevalent is Perrault Syndrome?

Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome.

Is Perrault Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.

Who are the top Perrault Syndrome Local Doctors?
Distinguished
Highly rated in
7
conditions

University Of Manchester

Infection And Genomics, School Of Biological Sciences 
Manchester, ENG, GB 

Emma Jenkinson practices in Manchester, United Kingdom. Jenkinson is rated as a Distinguished expert by MediFind in the treatment of Perrault Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Perrault Syndrome, Primary Familial Brain Calcification, Leukodystrophy, and Coats Disease.

Distinguished
Highly rated in
2
conditions

University Of Manchester

Evolution, Infection And Genomics, School Of Biological Sciences, Faculty Of Biology 
Manchester, ENG, GB 

Leigh Demain practices in Manchester, United Kingdom. Demain is rated as a Distinguished expert by MediFind in the treatment of Perrault Syndrome. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Perrault Syndrome, Premature Ovarian Failure, Gonadal Dysgenesis, and Amenorrhea.

 
 
 
 
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Distinguished
Highly rated in
18
conditions

University Of Manchester

Infection And Genomics, School Of Biological Sciences 
Manchester, ENG, GB 

Jill Urquhart practices in Manchester, United Kingdom. Urquhart is rated as a Distinguished expert by MediFind in the treatment of Perrault Syndrome. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Perrault Syndrome, Deafness Craniofacial Syndrome, 3MC Syndrome, and Choanal Atresia.

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Who are the sources who wrote this article ?

Published Date: December 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Perrault Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.