Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

被引：41

作者：

Capelli, Leonardo P. ^{[4
]}

Krepischi, C. V. ^{[4
]}

Gurgel-Giannetti, Juliana ^{[3
]}

Mendes, Mirian Fabiola S. ^{[2
]}

Rodrigues, Tatiane ^{[1
]}

Varela, Monica C. ^{[1
]}

Koiffmann, Celia P. ^{[1
]}

Rosenberg, Carla ^{[1
]}

机构：

[1] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, BR-05508090 Sao Paulo, Brazil

[2] Madre Teresa Hosp, Belo Horizonte, MG, Brazil

[3] Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG, Brazil

[4] AC Camargo Canc Hosp, Sao Paulo, Brazil

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 02期

基金：

巴西圣保罗研究基金会;

关键词：

Epilepsy; Chromosome microdeletion; CHD2; RGMA; ANGELMAN-SYNDROME; PHENOTYPE; REGION;

D O I：

10.1016/j.ejmg.2011.10.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features. (C) 2011 Elsevier Masson SAS. All rights reserved.

引用

页码：132 / 134

页数：3

共 10 条

[1] DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources [J].

Firth, Helen V. ;

Richards, Shola M. ;

Bevan, A. Paul ;

Clayton, Stephen ;

Corpas, Manuel ;

Rajan, Diana ;

Van Vooren, Steven ;

Moreau, Yves ;

Pettett, Roger M. ;

Carter, Nigel P. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (04) :524-533

[2] Congenital Diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization [J].

Klaassens, M ;

van Dooren, M ;

Eussen, HJ ;

Douben, H ;

den Dekker, AT ;

Lee, C ;

Donahoe, PK ;

Galjaard, RJ ;

Goemaere, N ;

de Krijger, RR ;

Wouters, C ;

Wauters, J ;

Oostra, BA ;

Tibboel, D ;

de Klein, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (05) :877-882

[3] Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis [J].

Kulkarni, Shashikant ;

Nagarajan, Prabakaran ;

Wall, Jonathan ;

Donovan, Diana J. ;

Doneh, Robert L. ;

Ligon, Azra H. ;

Venkatachalam, Sundaresan ;

Quade, Bradley J. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (09) :1117-1127

[4] The Chd family of chromatin remodelers [J].

Marfella, Concetta G. A. ;

Imbalzano, Anthony N. .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2007, 618 (1-2) :30-40

[5] A Mutation in the Mouse Chd2 Chromatin Remodeling Enzyme Results in a Complex Renal Phenotype [J].

Marfella, Concetta G. A. ;

Henninger, Nils ;

LeBlanc, Scott E. ;

Krishnan, Namrata ;

Garlick, David S. ;

Holzman, Lawrence B. ;

Imbalzano, Anthony N. .

KIDNEY & BLOOD PRESSURE RESEARCH, 2008, 31 (06) :421-432

[6] Deletion 22q13.3 syndrome [J].

Phelan, Mary C. .

ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)

[7] Angelman syndrome: Difficulties in EEG pattern recognition and possible misinterpretations [J].

Valente, KD ;

Andrade, JQ ;

Grossmann, RM ;

Kok, F ;

Fridman, C ;

Koiffmann, CP ;

Marques-Dias, MJ .

EPILEPSIA, 2003, 44 (08) :1051-1063

[8] A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient [J].

Varela, M. C. ;

Krepischi-Santos, A. C. V. ;

Paz, J. A. ;

Knijnenburg, J. ;

Szuhai, K. ;

Rosenberg, C. ;

Koiffmann, C. P. .

CYTOGENETIC AND GENOME RESEARCH, 2006, 114 (01) :89-92

[9] Angelman syndrome 2005: Updated consensus for diagnostic criteria [J].

Williams, CA ;

Beaudet, AL ;

Clayton-Smith, J ;

Knoll, JH ;

Kyllerman, M ;

Laan, LA ;

Magenis, RE ;

Moncla, A ;

Schinzel, AA ;

Summers, JA ;

Wagstaff, J .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (05) :413-418

[10] Imprinted segments in the human genome: Different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method [J].

Zeschnigk, M ;

Schmitz, B ;

Dittrich, B ;

Buiting, K ;

Horsthemke, B ;

Doerfler, W .

HUMAN MOLECULAR GENETICS, 1997, 6 (03) :387-395

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