title: Genotype and phenotype heterogeneity in perrault syndrome.
abstract: BACKGROUND
  The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified.
authors: Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
authors: Min Jeong
authors: MJ
authors: Kim
authors: Sa Jin
authors: SJ
authors: Kim
authors: Jiyeon
authors: J
authors: Kim
authors: Hyojin
authors: H
authors: Chae
authors: Myungshin
authors: M
authors: Kim
authors: Yonggoo
authors: Y
authors: Kim
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000293:Adolescent; D000604:Amino Acyl-tRNA Synthetases / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D005838:Genotype; D006059:Gonadal Dysgenesis / Q000235:genetics*; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D064029:Peroxisomal Multifunctional Protein-2; D010641:Phenotype; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C443678:PSMC3IP protein, human; D015534:Trans-Activators; D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; D000604:Amino Acyl-tRNA Synthetases; C093612:HARS2 protein, human