Perrault Syndrome

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).