De novo mosaic MECP2 mutation in a female with Rett syndrome

被引：4

作者：

Alexandrou, Angelos ^{[1
]}

Papaevripidou, Ioannis ^{[1
]}

Alexandrou, Ioanna Maria ^{[1
]}

Theodosiou, Athina ^{[1
]}

Evangelidou, Paola ^{[1
]}

Kousoulidou, Ludmila ^{[1
]}

Tanteles, George ^{[2
]}

Christophidou-Anastasiadou, Violetta ^{[2
,3
]}

Sismani, Carolina ^{[1
,4
]}

机构：

[1] Cyprus Inst Neurol & Genet, Dept Cytogenet & Genom, Nicosia, Cyprus

[2] Cyprus Inst Neurol & Genet, Dept Clin Genet, Nicosia, Cyprus

[3] Archbishop Makarios III Med Ctr, Nicosia, Cyprus

[4] Cyprus Sch Mol Med, Nicosia, Cyprus

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 02期

关键词：

MECP2; mutation; next-generation sequencing; Rett syndrome; somatic mosaicism; DIAGNOSTIC-CRITERIA; SOMATIC MOSAICISM; GENE; METHYLATION; FEATURES;

D O I：

10.1002/ccr3.1985

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. Rett syndrome should be considered in both males and females.

引用

页码：366 / 370

页数：5

共 21 条

[1]

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

[2] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].

Amir, RE ;

Van den Veyver, IB ;

Wan, M ;

Tran, CQ ;

Francke, U ;

Zoghbi, HY .

NATURE GENETICS, 1999, 23 (02) :185-188

[3] MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability [J].

Bianciardi, Laura ;

Fichera, Marco ;

Failla, Pinella ;

Di Marco, Chiara ;

Grozeva, Detelina ;

Mencarelli, Maria Antonietta ;

Spiga, Ottavia ;

Mari, Francesca ;

Meloni, Ilaria ;

Raymond, Lucy ;

Renieri, Alessandra ;

Romano, Corrado ;

Ariani, Francesca .

JOURNAL OF HUMAN GENETICS, 2016, 61 (02) :95-101

[4] X-chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain [J].

Braunschweig, D ;

Simcox, T ;

Samaco, RC ;

LaSalle, JM .

HUMAN MOLECULAR GENETICS, 2004, 13 (12) :1275-1286

[5] Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome [J].

Charman, T ;

Neilson, TC ;

Mash, V ;

Archer, H ;

Gardiner, MT ;

Knudsen, GPS ;

McDonnell, A ;

Perry, J ;

Whatley, SD ;

Bunyan, DJ ;

Ravn, K ;

Mount, RH ;

Hastings, RP ;

Hulten, M ;

Orstavik, KH ;

Reilly, S ;

Cass, H ;

Clarke, A ;

Kerr, AM ;

Bailey, MES .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (10) :1121-1130

[6] Long-read sequence analysis of the MECP2 gene in Rett syndrome patients:: correlation of disease severity with mutation type and location [J].

Cheadle, JP ;

Gill, H ;

Fleming, N ;

Maynard, J ;

Kerr, A ;

Leonard, H ;

Krawczak, M ;

Cooper, DN ;

Lynch, S ;

Thomas, N ;

Hughes, H ;

Hulten, M ;

Ravine, D ;

Sampson, JR ;

Clarke, A .

HUMAN MOLECULAR GENETICS, 2000, 9 (07) :1119-1129

[7]

Christodoulou J, 1993, GENEREVIEWS R, P1993

[8] Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues [J].

de Hoon, Bas ;

Monkhorst, Kim ;

Riegman, Peter ;

Laven, Joop S. E. ;

Gribnau, Joost .

JOURNAL OF MEDICAL GENETICS, 2015, 52 (11) :784-790

[9] Early onset seizures and Rett-like features associated with mutations in CDKL5 [J].

Evans, JC ;

Archer, HL ;

Colley, JP ;

Ravn, K ;

Nielsen, JB ;

Kerr, A ;

Williams, E ;

Christodoulou, J ;

Gécz, J ;

Jardine, PE ;

Wright, MJ ;

Pilz, DT ;

Lazarou, L ;

Cooper, DN ;

Sampson, JR ;

Butler, R ;

Whatley, SD ;

Clarke, AJ .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (10) :1113-1120

[10] Novel FOXG1 mutations associated with the congenital variant of Rett syndrome [J].

Mencarelli, M. A. ;

Spanhol-Rosseto, A. ;

Artuso, R. ;

Rondinella, D. ;

De Filippis, R. ;

Bahi-Buisson, N. ;

Nectoux, J. ;

Rubinsztajn, R. ;

Bienvenu, T. ;

Moncla, A. ;

Chabrol, B. ;

Villard, L. ;

Krumina, Z. ;

Armstrong, J. ;

Roche, A. ;

Pineda, M. ;

Gak, E. ;

Mari, F. ;

Ariani, F. ;

Renieri, A. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (01) :49-53

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