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.

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.

• Authors: Min Jeong Kim, Sa Jin Kim, Jiyeon Kim, Hyojin Chae, Myungshin Kim, Yonggoo Kim
• Journal: Journal of pediatric and adolescent gynecology (J Pediatr Adolesc Gynecol) Vol. 26 Issue 1 Pg. e25-7 (Feb 2013) ISSN: 1873-4332 [Electronic] United States
• PMID: 23332201 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Chemical References

• 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

Topics

• 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)