| 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).