Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

被引：52

作者：

Bartnik, Magdalena ^{[2
]}

Szczepanik, Elzbieta ^{[3
]}

Derwinska, Katarzyna ^{[2
]}

Wisniowiecka-Kowalnik, Barbara ^{[2
]}

Gambin, Tomasz ^{[4
]}

Sykulski, Maciej ^{[5
]}

Ziemkiewicz, Kamila ^{[2
]}

Kedzior, Marta ^{[2
]}

Gos, Monika ^{[2
]}

Hoffman-Zacharska, Dorota ^{[2
]}

Mazurczak, Tomasz ^{[3
]}

Jeziorek, Anetta ^{[3
]}

Antczak-Marach, Dorota ^{[3
]}

Rudzka-Dybala, Mariola ^{[3
]}

Mazurkiewicz, Hanna ^{[3
]}

Goszczanska-Ciuchta, Alicja ^{[3
]}

Zalewska-Miszkurka, Zofia ^{[3
]}

Terczynska, Iwona ^{[3
]}

Sobierajewicz, Malgorzata ^{[6
]}

Shaw, Chad A. ^{[1
]}

Gambin, Anna ^{[5
,7
]}

Mierzewska, Hanna ^{[3
]}

Mazurczak, Tadeusz ^{[2
]}

Obersztyn, Ewa ^{[2
]}

Bocian, Ewa ^{[2
]}

Stankiewicz, Pawel ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland

[3] Inst Mother & Child Hlth, Clin Neurol Children & Adolescents, Warsaw, Poland

[4] Warsaw Univ Technol, Inst Comp Sci, Warsaw, Poland

[5] Univ Warsaw, Inst Informat, Warsaw, Poland

[6] Child Neurol Outpatient Clin, Leszno, Poland

[7] Polish Acad Sci, Mossakowski Med Res Ctr, Warsaw, Poland

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS | 2012年 / 159B卷 / 07期

关键词：

seizures; array CGH; copy-number variants; KCNJ3; WWOX; CDH15; IMMP2L; SEVERE MENTAL-RETARDATION; IDIOPATHIC GENERALIZED EPILEPSY; 1P36 DELETION SYNDROME; COPY NUMBER VARIANTS; QUESTIONABLE PATHOGENICITY; 15Q13.3; MICRODELETIONS; CONGENITAL-ANOMALIES; 16P13.11; PREDISPOSE; FOXG1; DUPLICATION; TOURETTE-SYNDROME;

D O I：

10.1002/ajmg.b.32081

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Copy-number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application of microarray techniques enables detection of pathogenic CNVs in similar to 1020% of patients, there are only few studies of the role of CNVs in epilepsy and genetic etiology in the vast majority of cases remains unknown. We have applied whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) to a cohort of 102 patients with various types of epilepsy with or without additional neurodevelopmental abnormalities. Chromosomal microarray analysis revealed 24 non-polymorphic CNVs in 23 patients, among which 10 CNVs are known to be clinically relevant. Two rare deletions in 2q24.1q24.3, including KCNJ3 and 9q21.13 are novel pathogenic genetic loci and 12 CNVs are of unknown clinical significance. Our results further support the notion that rare CNVs can cause different types of epilepsy, emphasize the efficiency of detecting novel candidate genes by whole-genome array CGH, and suggest that the clinical application of array CGH should be extended to patients with unexplained epilepsies. (c) 2012 Wiley Periodicals, Inc.

引用

页码：760 / 771

页数：12

共 80 条

[61] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy [J].

Saitsu, Hirotomo ;

Kato, Mitsuhiro ;

Mizuguchi, Takeshi ;

Hamada, Keisuke ;

Osaka, Hitoshi ;

Tohyama, Jun ;

Uruno, Katsuhisa ;

Kumada, Satoko ;

Nishiyama, Kiyomi ;

Nishimura, Akira ;

Okada, Ippei ;

Yoshimura, Yukiko ;

Hirai, Syu-ichi ;

Kumada, Tatsuro ;

Hayasaka, Kiyoshi ;

Fukuda, Atsuo ;

Ogata, Kazuhiro ;

Matsumoto, Naomichi .

NATURE GENETICS, 2008, 40 (06) :782-788

[62] Genetic causes of epilepsy [J].

Sanchez-Carpintero Abad, Rocio ;

Sanmarti Vilaplana, Francesc X. ;

Serratosa, Jose Maria .

NEUROLOGIST, 2007, 13 (06) :S47-S51

[63] High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications [J].

Shaikh, Tamim H. ;

Gai, Xiaowu ;

Perin, Juan C. ;

Glessner, Joseph T. ;

Xie, Hongbo ;

Murphy, Kevin ;

O'Hara, Ryan ;

Casalunovo, Tracy ;

Conlin, Laura K. ;

D'Arcy, Monica ;

Frackelton, Edward C. ;

Geiger, Elizabeth A. ;

Haldeman-Englert, Chad ;

Imielinski, Marcin ;

Kim, Cecilia E. ;

Medne, Livija ;

Annaiah, Kiran ;

Bradfield, Jonathan P. ;

Dabaghyan, Elvira ;

Eckert, Andrew ;

Onyiah, Chioma C. ;

Ostapenko, Svetlana ;

Otieno, F. George ;

Santa, Erin ;

Shaner, Julie L. ;

Skraban, Robert ;

Smith, Ryan M. ;

Elia, Josephine ;

Goldmuntz, Elizabeth ;

Spinner, Nancy B. ;

Zackai, Elaine H. ;

Chiavacci, Rosetta M. ;

Grundmeier, Robert ;

Rappaport, Eric F. ;

Grant, Struan F. A. ;

White, Peter S. ;

Hakonarson, Hakon .

GENOME RESEARCH, 2009, 19 (09) :1682-1690

[64] The array CGH and its clinical applications [J].

Shinawi, Marwan ;

Cheung, Sau Wai .

DRUG DISCOVERY TODAY, 2008, 13 (17-18) :760-770

[65] Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size [J].

Shinawi, Marwan ;

Liu, Pengfei ;

Kang, Sung-Hae L. ;

Shen, Joseph ;

Belmont, John W. ;

Scott, Daryl A. ;

Probst, Frank J. ;

Craigen, William J. ;

Graham, Brett H. ;

Pursley, Amber ;

Clark, Gary ;

Lee, Jennifer ;

Proud, Monica ;

Stocco, Amber ;

Rodriguez, Diana L. ;

Kozel, Beth A. ;

Sparagana, Steven ;

Roeder, Elizabeth R. ;

McGrew, Susan G. ;

Kurczynski, Thaddeus W. ;

Allison, Leslie J. ;

Amato, Stephen ;

Savage, Sarah ;

Patel, Ankita ;

Stankiewicz, Pawel ;

Beaudet, Arthur L. ;

Cheung, Sau Wai ;

Lupski, James R. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (05) :332-341

[66] A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes [J].

Shinawi, Marwan ;

Schaaf, Christian P. ;

Bhatt, Samarth S. ;

Xia, Zhilian ;

Patel, Ankita ;

Cheung, Sau Wai ;

Lanpher, Brendan ;

Nagl, Sandra ;

Herding, Heinrich Stephan ;

Nevinny-Stickel, Claudia ;

Immken, LaDonna L. ;

Patel, Gayle Simpson ;

German, Jennifer Ruth ;

Beaudet, Arthur L. ;

Stankiewicz, Pawel .

NATURE GENETICS, 2009, 41 (12) :1269-1271

[67] Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters [J].

Singh, P ;

Gardner, RJM ;

Crossland, KM ;

Scheffer, IE ;

Berkovic, SF .

EPILEPSIA, 2002, 43 (02) :127-140

[68] Genetic contribution to common epilepsies [J].

Sisodiya, Sanjay M. ;

Mefford, Heather C. .

CURRENT OPINION IN NEUROLOGY, 2011, 24 (02) :140-145

[69] Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation [J].

Stankiewicz, Pawel ;

Beaudet, Arthur L. .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2007, 17 (03) :182-192

[70] Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats [J].

Stankiewicz, Pawel ;

Kulkarni, Shashikant ;

Dharmadhikari, Avinash V. ;

Sampath, Srirangan ;

Bhatt, Samarth S. ;

Shaikh, Tamim H. ;

Xia, Zhilian ;

Pursley, Amber N. ;

Cooper, M. Lance ;

Shinawi, Marwan ;

Paciorkowski, Alex R. ;

Grange, Dorothy K. ;

Noetzel, Michael J. ;

Saunders, Scott ;

Simons, Paul ;

Summar, Marshall ;

Lee, Brendan ;

Scaglia, Fernando ;

Fellmann, Florence ;

Martinet, Danielle ;

Beckmann, Jacques S. ;

Asamoah, Alexander ;

Platky, Kathryn ;

Sparks, Susan ;

Martin, Ann S. ;

Madan-Khetarpal, Suneeta ;

Hoover, Jacqueline ;

Medne, Livija ;

Bonnemann, Carsten G. ;

Moeschler, John B. ;

Vallee, Stephanie E. ;

Parikh, Sumit ;

Irwin, Polly ;

Dalzell, Victoria P. ;

Smith, Wendy E. ;

Banks, Valerie C. ;

Flannery, David B. ;

Lovell, Carolyn M. ;

Bellus, Gary A. ;

Golden-Grant, Kathryn ;

Gorski, Jerome L. ;

Kussmann, Jennifer L. ;

McGregor, Tracy L. ;

Hamid, Rizwan ;

Pfotenhauer, Jean ;

Ballif, Blake C. ;

Shaw, Chad A. ;

Kang, Sung-Hae L. ;

Bacino, Carlos A. ;

Patel, Ankita .

HUMAN MUTATION, 2012, 33 (01) :165-179

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