Short Communication A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl V. Belengeanu a,1,2 , T.H. Gamage b,c,2 , S. Farcas a , M. Stoian a,3 , N. Andreescu a , A. Belengeanu d , E. Frengen b,c , D. Misceo b,c, ⁎ a Discipline of Medical Genetics, University of Medicine and Pharmacy, Timisoara, Romania b Department of Medical Genetics, University of Oslo, Norway c Department of Medical Genetics, Oslo University Hospital, Norway d Discipline of Cellular and Molecular Biology, University of Medicine and Pharmacy, Timisoara, Romania abstract article info Article history: Received 12 December 2013 Received in revised form 16 January 2014 Accepted 23 January 2014 Available online 4 February 2014 Keywords: 2q24.2q24.3 deletion Developmental delay PSMD14 TBR1 SLC4A10 DPP4 KCNH7 FIGN We report a 20-month-old girl ascertained at the age of 11 months for developmental delay. She presented with hypotonia and delayed motor development. The patient had severe language impairment and showed behaviour consistent with autism spectrum disorder. She was microcephalic with mild dysmorphic features and had joint hyperlaxity. We detected a 2.3 Mb de novo deletion in 2q24.2q24.3 on her paternal chromosome. We compare the clinical features of our patient to six previously published patients with a deletion in 2q24.2q24.3, and one patient reported in the ECARUCA database. Although the clinical presentation of these patients is not highly consistent, likely due to the different deletion size and gene content, the following features seem to be recurrent: disturbance in the central nervous system, poor growth, hypotonia, and joint hyperlaxity. The region deleted in our patient contains 13 genes including PSMD14, TBR1, SLC4A10, DPP4, KCNH7, and FIGN. We briefly review the knowledge of these genes and their possible involvement in the aetiology of this developmental delay syndrome. © 2014 Elsevier B.V. All rights reserved. 1. Introduction More than 100 patients with a deletion on chromosome 2q have been identified, including more than 70 with terminal deletions and over 30 with interstitial deletions (Pescucci et al., 2007). The interstitial deletions most frequently reported involve the cytogenetic bands 2q31q33 (Van Buggenhout et al., 2005). Interstitial deletions in 2q24.2q24.3 are less frequent, but deletions in this region have been reported in the literature and in publicly available databases and are associated with developmental delay and intellectual disability (Van Buggenhout et al., 2005). The breakpoints of these deletions vary, extending the aberrations over a few mega bases along the chromo- some. Although some clinical features seem to be recurrent, these deletions are associated with a clinically heterogeneous phenotype. This is probably due to the different deletion sizes and gene content, but genetic variation in the remaining allele is likely playing a role for the phenotype, in addition to an influence of the genetic background of the rest of the genome. Here we report a patient with a 2.3 Mb deletion in chromosome 2q24.2q24.3. We compare the clinical phenotype of our patient with 6 previously described patients harbouring a deletion within 2q24. 2q24.3 overlapping the one in our patient (Burrage et al., 2013; Chen et al., 2010; Krepischi et al., 2010; Magri et al., 2011; Takatsuki et al., 2010; Traylor et al., 2012), in addition to one patient reported in ECARUCA (ID 4547). We also discuss the possible involvement of the genes in the region in the aetiology of the phenotype seen in the patients. Gene 539 (2014) 168–172 Abbreviations: aCGH, array comparative genomic hybridization; DPP4, dipeptidyl- peptidase 4; EEG, electroencephalography; FAP, fibroblast activation protein alpha; FIGN, fidgetin; FISH, fluorescence in situ hybridization; GCA, granalcin; GCG, glucagon; IFIH1, inter- feron induced with helicase C domain 1; KCNH7, potassium voltage gated channel subfamily H member 7; MRI, magnetic resonance imaging; MS-MLPA, methylation-specific-multiplex ligation-dependent probe amplification; OFC, occipitofrontal circumference; PSMD14, pro- teasome 26S subunit, non-ATPase 14; qPCR, quantitative polymerasse chain reaction; SLC4A10, solute carrier family 4 sodium bicarbonate transporter member 10; TBR1, T-box Brain 1. ⁎ Corresponding author at: Department of Medical Genetics, Oslo University Hospital, Ullevål, Kirkeveien 166, 0407 Oslo, Norway. Tel.: +47 22016628; fax: +47 23016629. E-mail addresses: belvtim@yahoo.com (V. Belengeanu), t.y.gamage@studmed.uio.no (T.H. Gamage), sfarcas2004@yahoo.com (S. Farcas), monistoian_dr@yahoo.com (M. Stoian), nicollandreescu@yahoo.com (N. Andreescu), alinabele@yahoo.com (A. Belengeanu), eirik.frengen@medisin.uio.no (E. Frengen), doriana.misceo@medisin.uio.no (D. Misceo). 1 Present affiliation: Department of Genetics, West University “Vasile Goldis”, Arad, Romania. 2 These authors contributed equally to this work. 3 Present affiliation: Personal Genetics, Medical Genetics Center, Bucharest, Romania. 0378-1119/$ – see front matter © 2014 Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.gene.2014.01.060 Contents lists available at ScienceDirect Gene journal homepage: www.elsevier.com/locate/gene