Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Magdalena Bartnik , Beata Nowakowska , Katarzyna Derwińska , Barbara Wiśniowiecka-Kowalnik , Marta Kędzior , Joanna Bernaciak , Kamila Ziemkiewicz , Tomasz Gambin , Maciej Sykulski , Natalia Bezniakow , Lech Korniszewski , Anna Kutkowska-Kaźmierczak , Jakub Klapecki , Krzysztof Szczałuba , Chad A. Shaw , Tadeusz Mazurczak , Anna Gambin , Ewa Obersztyn , Ewa Bocian , Paweł Stankiewicz

Abstract

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
Author Magdalena Bartnik - [Instytut Matki I Dziecka]
Magdalena Bartnik,,
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, Beata Nowakowska - [Instytut Matki I Dziecka]
Beata Nowakowska,,
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, Katarzyna Derwińska - [Instytut Matki I Dziecka]
Katarzyna Derwińska,,
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, Barbara Wiśniowiecka-Kowalnik - [Instytut Matki I Dziecka]
Barbara Wiśniowiecka-Kowalnik,,
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, Marta Kędzior - [Instytut Matki I Dziecka]
Marta Kędzior,,
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, Joanna Bernaciak - [Instytut Matki I Dziecka]
Joanna Bernaciak,,
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, Kamila Ziemkiewicz - [Instytut Matki I Dziecka]
Kamila Ziemkiewicz,,
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, Tomasz Gambin (FEIT / IN)
Tomasz Gambin,,
- The Institute of Computer Science
, Maciej Sykulski - [University of Warsaw, Institute of Informatics]
Maciej Sykulski,,
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- University of Warsaw, Institute of Informatics
, Natalia Bezniakow - [Instytut Matki I Dziecka]
Natalia Bezniakow,,
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et al.`
Journal seriesJournal of Applied Genetics, ISSN 1234-1983, (A 20 pkt)
Issue year2014
Vol 55, Issue 1
Pages125-144
Keywords in EnglishCopy-number variation, Microdeletion, Microduplication, Chromosomal microarray analysis
ASJC Classification1311 Genetics; 2700 General Medicine
DOIDOI:10.1007/s13353-013-0181-x
URL http://link.springer.com/article/10.1007/s13353-013-0181-x
ProjectDevelopment of new methods and algorithms in the following areas: computer graphics, artificial intelligence, and information systems, and distributed systems . Project leader: Rybiński Henryk, , Phone: +48 22 234 7731, start date 29-05-2013, planned end date 31-12-2013, end date 30-11-2014, II/2013/DS/1, Completed
WEiTI Działalność statutowa
Languageen angielski
File
aacgh.pdf 487.6 KB
Score (nominal)20
ScoreMinisterial score = 20.0, 04-09-2019, ArticleFromJournal
Ministerial score (2013-2016) = 20.0, 04-09-2019, ArticleFromJournal
Publication indicators WoS Citations = 20; Scopus Citations = 20; Scopus SNIP (Source Normalised Impact per Paper): 2014 = 0.778; WoS Impact Factor: 2014 = 1.477 (2) - 2014=1.627 (5)
Citation count*44 (2020-01-16)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
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