Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

Abstract

We report on two sporadic and two familial new cases with sensorineural hearing impairment and ovarian dysgenesis which are the cardinal signs of Perrault syndrome in females. Only one of them has a nervous system defect. We reviewed all the published cases of Perrault syndrome in order to define the clinical variability and to evaluate the frequency of the neurological anomalies in this clinical entity. Moreover we excluded GJB2, POLG, and FOXL2 as candidate genes in Perrault syndrome.

• Authors: Sandrine Marlin, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Cyril Goizet, Thierry Billette de Villemeur, Sylvie Cabrol, Muriel Houang, Lucien Moatti, Delphine Feldmann, Françoise Denoyelle
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 5 Pg. 661-4 (Mar 01 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 18241061 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2008 Wiley-Liss, Inc.

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

Topics

• Adolescent
• Adult
• Connexin 26
• Connexins
• Female
• Genetic Predisposition to Disease
• Gonadal Dysgenesis (genetics)
• Hearing Loss, Sensorineural (diagnosis, genetics)
• Humans
• Ovary (abnormalities)
• Syndrome