Back to Search
Start Over
Genotype and Phenotype Heterogeneity in Perrault Syndrome
- Source :
- Journal of Pediatric and Adolescent Gynecology. 26:e25-e27
- Publication Year :
- 2013
- Publisher :
- Elsevier BV, 2013.
-
Abstract
- 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.
- Subjects :
- medicine.medical_specialty
17-Hydroxysteroid Dehydrogenases
Adolescent
Genotype
Hearing loss
Hearing Loss, Sensorineural
Gonadal dysgenesis
Gonadal Dysgenesis
Amino Acyl-tRNA Synthetases
Genetic Heterogeneity
Genotype-phenotype distinction
Cataracts
Internal medicine
medicine
Humans
Missense mutation
Peroxisomal Multifunctional Protein-2
Hydro-Lyases
Genetics
Genetic heterogeneity
business.industry
Marfanoid
Nuclear Proteins
Obstetrics and Gynecology
General Medicine
medicine.disease
Gonadal Dysgenesis, 46,XX
Phenotype
Endocrinology
Mutation
Pediatrics, Perinatology and Child Health
Trans-Activators
Female
Sensorineural hearing loss
medicine.symptom
business
Subjects
Details
- ISSN :
- 10833188
- Volume :
- 26
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric and Adolescent Gynecology
- Accession number :
- edsair.doi.dedup.....b3a848d0346bb8780e8ba38f6df83624