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

[1] Questionable pathogenicity of FOXG1 duplication [J].

Amor, David J. ;

Burgess, Trent ;

Tan, Tiong Y. ;

Pertile, Mark D. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (06) :595-596

[2] Spectrum of epilepsy in terminal 1p36 deletion syndrome [J].

Bahi-Buisson, Nadia ;

Guttierrez-Delicado, Eva ;

Soufflet, Christine ;

Rio, Marlene ;

Daire, Valerie Cormier ;

Lacombe, Didier ;

Heron, Delphine ;

Verloes, Alain ;

Zuberi, Sameer ;

Burglen, Lydie ;

Afenjar, Alexandra ;

Moutard, Marie Laure ;

Edery, Patrick ;

Novelli, Antonio ;

Bernardini, Laura ;

Dulac, Olivier ;

Nabbout, Rima ;

Plouin, Perrine ;

Battaglia, Agatino .

EPILEPSIA, 2008, 49 (03) :509-515

[3] Epileptic Encephalopathy in a Girl With an Interstitial Deletion of Xp22 Comprising Promoter and Exon 1 of the CDKL5 Gene [J].

Bahi-Buisson, Nadia ;

Girard, Benoit ;

Gautier, Agnes ;

Nectoux, Juliette ;

Fichou, Yann ;

Saillour, Yoann ;

Poirier, Karine ;

Chelly, Jamel ;

Bienvenu, Thierry .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2010, 153B (01) :202-207

[4] Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 [J].

Ballif, Blake C. ;

Hornor, Sara A. ;

Jenkins, Elizabeth ;

Madan-Khetarpal, Suneeta ;

Surti, Urvashi ;

Jackson, Kelly E. ;

Asamoah, Alexander ;

Brock, Pamela L. ;

Gowans, Gordon C. ;

Conway, Robert L. ;

Graham, John M., Jr. ;

Medne, Livija ;

Zackai, Elaine H. ;

Shaikh, Tamim H. ;

Geoghegan, Joel ;

Selzer, Rebecca R. ;

Eis, Peggy S. ;

Bejjani, Bassem A. ;

Shaffer, Lisa G. .

NATURE GENETICS, 2007, 39 (09) :1071-1073

[5] Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females [J].

Bartnik, Magdalena ;

Derwinska, Katarzyna ;

Gos, Monika ;

Obersztyn, Ewa ;

Kolodziejska, Katarzyna E. ;

Erez, Ayelet ;

Szpecht-Potocka, Agnieszka ;

Fang, Ping ;

Terczynska, Iwona ;

Mierzewska, Hanna ;

Lohr, Naomi J. ;

Bellus, Gary A. ;

Reimschisel, Tyler ;

Bocian, Ewa ;

Mazurczak, Tadeusz ;

Cheung, Sau Wai ;

Stankiewicz, Pawel .

GENETICS IN MEDICINE, 2011, 13 (05) :447-452

[6]

Battaglia A, 2005, EPILEPTIC DISORD, V7, P181

[7] Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009 [J].

Berg, Anne T. ;

Berkovic, Samuel F. ;

Brodie, Martin J. ;

Buchhalter, Jeffrey ;

Cross, J. Helen ;

Boas, Walter van Emde ;

Engel, Jerome ;

French, Jacqueline ;

Glauser, Tracy A. ;

Mathern, Gary W. ;

Moshe, Solomon L. ;

Nordli, Douglas ;

Plouin, Perrine ;

Scheffer, Ingrid E. .

EPILEPSIA, 2010, 51 (04) :676-685

[8] Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability [J].

Bhalla, Kavita ;

Luo, Yue ;

Buchan, Tim ;

Beachem, Michael A. ;

Guzauskas, Gregory F. ;

Ladd, Sydney ;

Bratcher, Shelly J. ;

Schroer, Richard J. ;

Balsamo, Janne ;

DuPont, Barbara R. ;

Lillen, Jack ;

Srivastava, Anand K. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) :703-713

[9] Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH [J].

Boone, Philip M. ;

Bacino, Carlos A. ;

Shaw, Chad A. ;

Eng, Patricia A. ;

Hixson, Patricia M. ;

Pursley, Amber N. ;

Kang, Sung-Hae L. ;

Yang, Yaping ;

Wiszniewska, Joanna ;

Nowakowska, Beata A. ;

del Gaudio, Daniela ;

Xia, Zhilian ;

Simpson-Patel, Gayle ;

Immken, LaDonna L. ;

Gibson, James B. ;

Tsai, Anne C. -H. ;

Bowers, Jennifer A. ;

Reimschisel, Tyler E. ;

Schaaf, Christian P. ;

Potocki, Lorraine ;

Scaglia, Fernando ;

Gambin, Tomasz ;

Sykulski, Maciej ;

Bartnik, Magdalena ;

Derwinska, Katarzyna ;

Wisniowiecka-Kowalnik, Barbara ;

Lalani, Seema R. ;

Probst, Frank J. ;

Bi, Weimin ;

Beaudet, Arthur L. ;

Patel, Ankita ;

Lupski, James R. ;

Cheung, Sau Wai ;

Stankiewicz, Pawel .

HUMAN MUTATION, 2010, 31 (12) :1326-1342

[10]

Brunetti-Pierri N, 2012, EUR J HUM GENET, V20, P596, DOI 10.1038/ejhg.2011.270

← 1 2 3 4 5 6 7 8 →