Perrault syndrome

Definition:

Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in different genes, mostly related to mitochondrial proteostasis.

References:

[1]. Agata Fiumara, et al. Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A. 2004 Jul 30;128A(3):246-9. [Content Brief]

[2]. Emma M Jenkinson, et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 4;92(4):605-13. [Content Brief]

[3]. Hiroyuki Morino, et al. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. [Content Brief]

[4]. Iliana A Chatzispyrou, et al. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. [Content Brief]

[5]. Sarah B Pierce, et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013 Apr 4;92(4):614-20. [Content Brief]

[6]. Sarah B Pierce, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. [Content Brief]

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