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

被引：19

作者：

Marlin, Sandrine ^{[1
,2
]}

Lacombe, Didier ^{[3
]}

Jonard, Laurence ^{[2
,4
]}

Leboulanger, Nicolas ^{[5
]}

Bonneau, Dominique ^{[6
]}

Goizet, Cyril

de Villemeur, Thierry Billette ^{[7
]}

Cabrol, Sylvie ^{[8
]}

Houang, Muriel ^{[8
]}

Moatti, Lucien ^{[5
]}

Feldmann, Delphine ^{[2
,4
]}

Denoyelle, Francoise ^{[2
,5
]}

机构：

[1] Hop Trousseau, AP HP, Serv Genet, F-75571 Paris 12, France

[2] INSERM, U587, F-75654 Paris, France

[3] Hop Pellegrin, Serv Genet, F-33076 Bordeaux, France

[4] Hop Trousseau, AP HP, Serv Biochim & Biol Mol, F-75571 Paris, France

[5] Hop Trousseau, AP HP, Serv ORL, F-75571 Paris, France

[6] CHU Angers, Serv Genet, Angers, France

[7] Hop Trousseau, AP HP, Serv Neuropediat, F-75571 Paris, France

[8] Hop Trousseau, AP HP, Serv Endocrinol, F-75571 Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 05期

关键词：

Perrault syndrome; hearing impairment; ovarian dysgenesis; neuropathy; GJB2; FOXL2; POLG;

D O I：

10.1002/ajmg.a.32180

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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, POIG, and FOXL2 as candidate genes in Perrault syndrome. (C) 2008 Wiley-Liss, Inc.

引用

页码：661 / 664

页数：4

共 7 条

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[2] Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review
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[7] MCLEOD SYNDROME - A DISTINCT FORM OF NEUROACANTHOCYTOSIS - REPORT OF 2 CASES AND LITERATURE-REVIEW WITH EMPHASIS ON NEUROMUSCULAR MANIFESTATIONS
WITT, TN
DANEK, A
REITER, M
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DIRSCHINGER, J
OLSEN, EGJ
JOURNAL OF NEUROLOGY, 1992, 239 (06) : 302 - 306

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