title: 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.affiliation: Hôpital Trousseau, Service de Génétique, APHP, Paris, France. sandrine.marlin@trs.aphp.fr
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Laurence
authors.initials: L
authors.lastname: Jonard
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leboulanger
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Thierry Billette
authors.initials: TB
authors.lastname: de Villemeur
authors.forename: Sylvie
authors.initials: S
authors.lastname: Cabrol
authors.forename: Muriel
authors.initials: M
authors.lastname: Houang
authors.forename: Lucien
authors.initials: L
authors.lastname: Moatti
authors.forename: Delphine
authors.initials: D
authors.lastname: Feldmann
authors.forename: Françoise
authors.initials: F
authors.lastname: Denoyelle
mesh_terms: 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
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26