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Human Molecular Genetics Advance Access published online on March 14, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm016
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© 2007 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Characterization of a recurrent 15q24 microdeletion syndrome

Andrew J Sharp1, Rebecca R Selzer2, Joris A Veltman3, Stefania Gimelli4, Giorgio Gimelli5, Pasquale Striano6,7, Antonietta Coppola6, Regina Regan8, Sue M Price9, Nine V Knoers3, Peggy S Eis2, Han G Brunner3, Raoul C Hennekam10, Samantha JL Knight8, Bert BA de Vries3, Orsetta Zuffardi4,11 and Evan E Eichler1,12,*

1 Department of Genome Sciences, University of Washington School of Medicine 2 NimbleGen Systems Inc., Madison, WI 53711, USA 3 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 4 Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy 5 Citogenetica Ospedale Gaslini, Genova, Italy 6 Dipartimento di Scienze Neurologiche, Università Federico II, Napoli, Italy 7 Unità Neuromuscolare Ospedale Gaslini, Genova, Italy 8 Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford, UK 9 Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Churchill Hospital, Oxford, OX3 7LJ, UK 10 Clinical and Molecular Genetics Unit, Institute of Child Health, UCL, London and Department of Pediatrics, AMC, University of Amsterdam, The Netherlands 11 Fondazione IRCSS Policlinico San Matteo, Pavia, Italy 12 Howard Hughes Medical Institute, 1705 NE Pacific St. Seattle, WA, 98195, USA

* Corresponding author: Evan Eichler, Ph.D., Department of Genome Sciences University of Washington and Howard Hughes Medical Institute, Foege Building S413A, Box 355065, 1705 NE Pacific St., Seattle, WA 98195, Telephone: (206) 543-9526, Fax: (206) 685-7301, E-mail: eee{at}gs.washington.edu

Received January 3, 2007; Revised February 2, 2007; Accepted February 2, 2007

We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High resolution analysis showed that in three patients both proximal and distal breakpoints co-localized to highly identical segmental duplications (>51 kb in length, >94% identity), suggesting non-allelic homologous recombination as the likely mechanism of origin. Sequencing studies in a fourth individual provided basepair resolution, and showed that both breakpoints in this case were located in unique sequence. Despite differences in the size and location of the deletions, all four individuals share several major features (growth retardation, microcephaly, digital abnormalities, hypospadias and loose connective tissue) and resemble one another facially (high anterior hair line, broad medial eyebrows, hypertelorism, downslanted palpebral fissures, broad nasal base, long smooth philtrum and full lower lip), indicating that this represents a novel syndrome caused by haploinsufficiency of one or more dosage-sensitive genes in the minimal deletion region. Our results define microdeletion of 15q24 as a novel recurrent genomic disorder.


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