|Locus||Gene (OMIM)||Genomic Location||Inheritance||Key Reference (PubMed)|
|PRLTS1||HSD17B4||5q23.1||Autosomal Recessive||Pierce et al., 2011|
|PRLTS2||HARS2||5q31.3||Autosomal Recessive||Pierce et al., 2011|
|PRLTS3/DFNB81||CLPP*||19p13.3||Autosomal Recessive||Jenkinson et al., 2013|
|PRLTS4||LARS2||3p21.31||Autosomal Recessive||Pierce et al., 2013|
|PRLTS5||TWNK||10q24.21||Autosomal Recessive||Morino et al., 2014|
|PRLTS6||ERAL1||17q11.2||Autosomal Recessive||Chatzispyrou et al., 2017|
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).