Title: Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16
Authors: Balikova, Irina
Martens, Kevin
Melotte, Cindy
Amyere, Mustapha
Van Vooren, Steven
Moreau, Yves
Vetrie, David
Fiegler, Heike
Carter, Nigel P
Liehr, Thomas
Vikkula, Miikka
Matthijs, Gert
Fryns, Jean-Pierre
Casteels, Ingele
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: Jan-2008
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:81 issue:1 pages:181-187
Abstract: Recently, large-scale benign copy-number variations (CNVs)--encompassing over 12% of the genome and containing genes considered to be dosage tolerant for human development--were uncovered in the human population. Here we present a family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct. This phenotype is linked to a cytogenetically visible alteration at 4pter consisting of five copies of a copy-number-variable region, encompassing a low-copy repeat (LCR)-rich sequence. We demonstrate that the approximately 750 kb amplicon occurs in exact tandem copies. This is the first example of an amplified CNV associated with a Mendelian disorder, a discovery that implies that genome screens for genetic disorders should include the analysis of so-called benign CNVs and LCRs.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Ophthalmology
Associated Laboratories - miscellaneous (-)
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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