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

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 th...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-03, Vol.146A (5), p.661-664
Main Authors: Marlin, Sandrine, Lacombe, Didier, Jonard, Laurence, Leboulanger, Nicolas, Bonneau, Dominique, Goizet, Cyril, Billette de Villemeur, Thierry, Cabrol, Sylvie, Houang, Muriel, Moatti, Lucien, Feldmann, Delphine, Denoyelle, Françoise
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Connexins
Female
FOXL2
Genetic Predisposition to Disease
GJB2
Gonadal Dysgenesis - genetics
hearing impairment
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
Humans
Medical genetics
Medical sciences
neuropathy
ovarian dysgenesis
Ovary - abnormalities
Perrault syndrome
POLG
Syndrome
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Summary: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. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32180