| Locus (OMIM) | Gene (OMIM) | Inheritance | Key Locus References (PubMed) | Key Gene References (PubMed) | Evidence (ClinGen)  |
|---|---|---|---|---|---|
| PRLTS1 | HSD17B4 | Autosomal Recessive | Pierce et al., 2010 | Pierce et al., 2010 | Definitive |
| PRLTS2 | HARS2 | Autosomal Recessive | Pierce et al., 2010 | Pierce et al., 2010 | Limited |
| PRLTS3/DFNB81 | CLPP | Autosomal Recessive | Jenkinson et al., 2013 | Jenkinson et al., 2013 | Definitive |
| PRLTS4 | LARS2 | Autosomal Recessive | Pierce et al., 2013 | Pierce et al., 2013 | Definitive |
| PRLTS5 | TWNK | Autosomal Recessive | Morino et al., 2014 | Morino et al., 2014 | not reviewed |
| PRLTS6 | ERAL1 | Autosomal Recessive | Chatzispyrou et al., 2017 | Chatzispyrou et al., 2017 | not reviewed |
| PRLTS7 | DAP3 | Autosomal Recessive | Smith et al., 2025 | Smith et al., 2025 | not reviewed |
| unassigned | PEX6 | Autosomal Recessive | Tucker et al., 2020 | Tucker et al., 2020 | not 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).