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Article

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

American journal of medical genetics. Part A - 1 Mar 2008

Marlin Sandrine, Lacombe Didier, Jonard Laurence, Leboulanger Nicolas, Bonneau Dominique, Goizet Cyril, de Villemeur Thierry Billette, Cabrol Sylvie, Houang Muriel, Moatti Lucien, Feldmann Delphine, Denoyelle Françoise

Abstract excerpt

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...

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Source

Identifiers

PMID: 18241061
DOI: 10.1002/ajmg.a.32180

Genes

FOXL2
GJB2
POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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