De novo MECP2 mutation in a 46,XX male patient with Rett syndrome

被引：17

作者：

Maiwald, R

Bönte, A

Jung, H

Bitter, P

Storm, Z

Laccone, F

Herkenrath, P

机构：

[1] Inst Med Genet & Mol Med, D-50939 Cologne, Germany

[2] Univ Cologne, Childrens Hosp, D-50924 Cologne, Germany

[3] Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany

来源：

NEUROGENETICS | 2002年 / 4卷 / 02期

关键词：

Rett syndrome; MECP2; E455X; XX male;

D O I：

10.1007/s10048-002-0137-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：107 / 108

页数：2

共 7 条

[1]

ALLEN RC, 1992, AM J HUM GENET, V51, P1229

[2] THE ROLE OF THE SEX-DETERMINING REGION-Y GENE IN THE ETIOLOGY OF 46,XX MALENESS [J].

FECHNER, PY ;

MARCANTONIO, SM ;

JASWANEY, V ;

STETTEN, G ;

GOODFELLOW, PN ;

MIGEON, CJ ;

SMITH, KD ;

BERKOVITZ, GD ;

AMRHEIN, JA ;

BARD, PA ;

LEE, PA ;

REID, C ;

TSALIKIAN, E ;

URBAN, MD .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 76 (03) :690-695

[3] Occurrence of Rett syndrome in boys [J].

Leonard, H ;

Silberstein, J ;

Falk, R ;

Houwink-Manville, I ;

Ellaway, C ;

Raffaele, LS ;

Engerström, IW ;

Schanen, C .

JOURNAL OF CHILD NEUROLOGY, 2001, 16 (05) :333-338

[4] MECP2 mutation in male patients with non-specific X-linked mental retardation [J].

Orrico, A ;

Lam, CW ;

Galli, L ;

Dotti, MT ;

Hayek, G ;

Tong, SF ;

Poon, PMK ;

Zappella, M ;

Federico, A ;

Sorrentino, V .

FEBS LETTERS, 2000, 481 (03) :285-288

[5] Multicolor spectral karyotyping of human chromosomes [J].

Schrock, E ;

duManoir, S ;

Veldman, T ;

Schoell, B ;

Wienberg, J ;

FergusonSmith, MA ;

Ning, Y ;

Ledbetter, DH ;

BarAm, I ;

Soenksen, D ;

Garini, Y ;

Ried, T .

SCIENCE, 1996, 273 (5274) :494-497

[6] Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene [J].

Schwartzman, JS ;

Bernardino, A ;

Nishimura, A ;

Gomes, RR ;

Zatz, M .

NEUROPEDIATRICS, 2001, 32 (03) :162-164

[7] MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin [J].

Trappe, R ;

Laccone, F ;

Cobilanschi, J ;

Meins, M ;

Huppke, P ;

Hanefeld, F ;

Engel, W .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (05) :1093-1101

← 1 →