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 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.
Marlin
Sandrine
S
Hôpital Trousseau, Service de Génétique, APHP, Paris, France. sandrine.marlin@trs.aphp.fr
Lacombe
Didier
D
Jonard
Laurence
L
Leboulanger
Nicolas
N
Bonneau
Dominique
D
Goizet
Cyril
C
de Villemeur
Thierry Billette
TB
Cabrol
Sylvie
S
Houang
Muriel
M
Moatti
Lucien
L
Feldmann
Delphine
D
Denoyelle
Françoise
F
D000293:Adolescent; D000328:Adult; D000072259:Connexin 26; D017630:Connexins; D005260:Female; D020022:Genetic Predisposition to Disease; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D010053:Ovary / Q000002:abnormalities*; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26