domingo, 7 de diciembre de 2014

Perrault syndrome - Genetics Home Reference

Perrault syndrome - Genetics Home Reference

New on the MedlinePlus Hearing Disorders and Deafness page:
12/02/2014 11:30 PM EST

Source: National Library of Medicine - NIH
Genetics Home Reference: your guide to understanding genetic conditions

Perrault syndrome

Reviewed December 2014

What is 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.
In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time.
Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile).
Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.

How common 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.

What genes are related to Perrault syndrome?

Perrault syndrome has several genetic causes. C10orf2CLPPHARS2LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2CLPPHARS2, 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.
The protein produced from the HSD17B4 gene is active in cell structures called peroxisomes, which contain a variety of enzymes that break down many different substances in cells. It is not known how mutations in this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault syndrome.
It is likely that other genes that have not been identified are also involved in this condition.
Read more about the C10orf2CLPPHARS2HSD17B4, and LARS2 genes.

How do people inherit 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.

Where can I find information about diagnosis or management of Perrault syndrome?

These resources address the diagnosis or management of Perrault syndrome and may include treatment providers.
You might also find information on the diagnosis or management of Perrault syndrome in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Perrault syndrome?

You may find the following resources about Perrault syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Perrault syndrome?

  • gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
  • gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance
  • gonadal dysgenesis, XX type, with deafness
  • ovarian dysgenesis with sensorineural deafness
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Perrault syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Perrault syndrome?

References (6 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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