Genotype and phenotype heterogeneity in perrault syndrome

J Pediatr Adolesc Gynecol. 2013 Feb;26(1):e25-7. doi: 10.1016/j.jpag.2012.10.008.


Background: The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous.

Case: We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14 single nucleotide variations including 2 homozygous missense change of c.317G>A (p.Arg106His) and c.1675A>G (p.Ile559Val) in HSD17B4. No significant mutation in HARS2 and PSMC3IP, and gene copy number variant were found as the cause of Perrault syndrome.

Summary and conclusion: Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / genetics*
  • Adolescent
  • Amino Acyl-tRNA Synthetases / genetics*
  • Female
  • Genetic Heterogeneity
  • Genotype
  • Gonadal Dysgenesis / genetics*
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Hydro-Lyases / genetics*
  • Mutation
  • Nuclear Proteins / genetics*
  • Peroxisomal Multifunctional Protein-2
  • Phenotype
  • Trans-Activators / genetics*


  • Nuclear Proteins
  • PSMC3IP protein, human
  • Trans-Activators
  • 17-Hydroxysteroid Dehydrogenases
  • Hydro-Lyases
  • Peroxisomal Multifunctional Protein-2
  • HSD17B4 protein, human
  • Amino Acyl-tRNA Synthetases
  • HARS2 protein, human

Supplementary concepts

  • Gonadal dysgenesis XX type deafness