佩罗特综合征：4例新病例报告、候选基因的回顾与排除

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

作者信息

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

机构信息

Hôpital Trousseau, Service de Génétique, APHP, Paris, France.

出版信息

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

DOI:10.1002/ajmg.a.32180

PMID:18241061

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.

摘要

我们报告了两例散发和两例家族性的新病例，这些病例患有感音神经性听力障碍和卵巢发育不全，这是女性佩罗特综合征的主要症状。其中只有一例存在神经系统缺陷。我们回顾了所有已发表的佩罗特综合征病例，以确定临床变异性，并评估该临床实体中神经异常的发生率。此外，我们排除了GJB2、POLG和FOXL2作为佩罗特综合征的候选基因。