SCIENTIFIC BACKGROUND

CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK

Category:

Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females. Women also have ovarian dysfunction, the spectrum of which can range from primary ovarian insufficiency (POI) to ovarian dysgenesis. Bilateral SNHL can also present with a wide range of severity, from severe with prelingual (congenital) onset to moderate with onset in early childhood. There are different types with autosomal recessive inheritance due to pathogenic variants in different genes.

GENES

CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK

ASSOCIATED TESTS

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