Article

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

2017-07-25

Abstract excerpt

Perrault syndrome is a rare autosomal recessive condition characterised by sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46 XX, females. It is genetically heterogeneous with biallelic variants in six genes identified to date ( HSD17B4 , HARS2 , LARS2 , CLPP , C10orf2 and ERAL1 ). Most genes possessing variants associated with Perrault syndrome are involved in mitochondrial tra...

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Literature Corpus work: 40fbddde-2f9b-5897-8bae-225591055ee1
DOI: 10.1101/168252

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