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Perrault syndrome: Report of four new cases, review and exclusion of candidate genes
Author(s) -
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
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32180
Subject(s) - candidate gene , medicine , gene , biology , genetics
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.