Document Detail


Genotype and phenotype heterogeneity in perrault syndrome.
MedLine Citation:
PMID:  23332201     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric and adolescent gynecology     Volume:  26     ISSN:  1873-4332     ISO Abbreviation:  J Pediatr Adolesc Gynecol     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9610774     Medline TA:  J Pediatr Adolesc Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e25-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
Affiliation:
Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
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