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

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
Am. J. Med. Genet.. 2008-01-01; 146A(5): 661-664
DOI: 10.1002/ajmg.a.32180

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1. Am J Med Genet A. 2008 Mar 1;146A(5):661-4. doi: 10.1002/ajmg.a.32180.

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

Marlin S(1), Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de
Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F.

Author information:
(1)Hôpital Trousseau, Service de Génétique, APHP, Paris, France.

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.

(c) 2008 Wiley-Liss, Inc.

DOI: 10.1002/ajmg.a.32180
PMID: 18241061 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus