Perrault syndrome

Locus

Location

Gene

References

OMIM entry


5q23.1

HSD17B4

Pierce et al., 2011

233400


5q31.3

HARS2

Pierce et al., 2011

614926

DFNB81

19p13.3

CLPP*

Jenkinson et al., 2013

614926

 

3p21.31

LARS2

Pierce et al., 2013

614926

 






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, J. Neurology 259, 974-976).

*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).