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Title: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1
Authors: Breckpot, Jeroen ×
Thienpont, Bernard
Bauters, Marijke
Tranchevent, Léon-Charles
Gewillig, Marc
Allegaert, Karel
Vermeesch, Joris
Moreau, Yves
Devriendt, Koenraad #
Issue Date: Mar-2012
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:158A issue:3 pages:574-580
Article number: 10.1002/ajmg.a.35217
Abstract: The proximal region of the long arm of chromosome 22 is rich in low copy repeats (LCR). Non-allelic homologous recombination (NAHR) between these substrates explains the high prevalence of recurrent rearrangements within this region. We have performed array comparative genomic hybridization in a normally developing girl with growth delay, microcephaly, and truncus arteriosus, and have identified a novel recurrent 22q11 deletion that spans LCR22-4 and partially affects the common 22q11.2 deletion syndrome and the distal 22q11 deletion syndrome. This deletion is atypical as it did not occur by NAHR between any of the major LCRs found on 22q11.2. However, the breakpoint containing regions coincide with highly homologous regions. An identical imbalance was reported previously in a patient with striking phenotypic similarity. Computational gene prioritization methods and biological evidence denote the genes CRKL and MAPK1 as the highest ranking candidates for causing congenital heart disease within the deleted region. © 2012 Wiley Periodicals, Inc.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Human Genome Laboratory
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Cardiovascular Developmental Biology
× corresponding author
# (joint) last author

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