The Perrault syndrome is a rare genetic disorder that results in sensorineural hearing loss in both men and women, as well as ovarian dysfunction in women. The majority of cases are female, with about 100 reported so far.
Symptoms of Perrault syndrome include:
Individuals with Perrault syndrome may suffer from intellectual disability, balance and coordination problems (ataxia), and numbness in their limbs. This condition, however, does not affect everyone neurologically.
Changes (mutations) in six genes lead to Perrault syndrome: CLPP, ERAL1, HARS2, HSD17B4, LARS2, or TWNK. About 40% of patients have mutations in one of these genes. The cause is still unknown in the other 60% of patients
The Perrault syndrome is an autosomal recessive genetic disorder. In an autosomal recessive genetic disorder, an individual inherits a non-working gene from each parent.
A total of 100 cases of Perrault syndrome have been reported, making it a very rare disorder (<1 in 1 million).
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