Perrault Syndrome

Locus (OMIM)Gene (OMIM)InheritanceKey Locus References (PubMed)Key Gene References (PubMed)
Evidence (ClinGen)
PRLTS1HSD17B4Autosomal RecessivePierce et al., 2010Pierce et al., 2010Definitive
PRLTS2HARS2Autosomal RecessivePierce et al., 2010Pierce et al., 2010Limited
PRLTS3/DFNB81CLPPAutosomal RecessiveJenkinson et al., 2013Jenkinson et al., 2013Definitive
PRLTS4LARS2Autosomal RecessivePierce et al., 2013Pierce et al., 2013Strong
PRLTS5TWNKAutosomal RecessiveMorino et al., 2014Morino et al., 2014not reviewed
PRLTS6ERAL1Autosomal RecessiveChatzispyrou et al., 2017Chatzispyrou et al., 2017not reviewed
unassignedPEX6Autosomal RecessiveTucker et al., 2020Tucker et al., 2020not reviewed


Perrault syndrome (MIM 233400) is an autosomal recessive disorder that is clinically and genetically heterogeneous and characterized by hearing loss in males and females and premature ovarian failure (POF) (for a review, see Jenkinson et al., 2012).

* Affected males would be categorized as having nonsyndromic deafness. In the case of mutations of CLPP, one of three mutant alleles (c.270+4A>G) is a leaky splice site mutation and appears to only cause nonsyndromic deafness DFNB81 in females as well, although clinical data for the family segregating c.270+4A>G was sparse (Jenkinson et al., 2013).