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