Tassano Elisa, Uccella Sara, Ronchetto Patrizia, Martinheira Da Silva Joana Soraia, Viaggi Silvia, Mancardi Margherita, Ramenghi Luca, Murri Alessandra, Biondi Marina, Gimelli Giorgio, Morerio Cristina, Malacarne Michela, Coviello Domenico
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy,
Department of Medical and Surgical Neuroscience and Rehabilitation, University of Genoa, Genoa, Italy.
Cytogenet Genome Res. 2022;162(3):132-139. doi: 10.1159/000525181. Epub 2022 Jul 27.
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention on SLC4A10, DPP4, and KCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, joint laxity, and dysmorphic features. Only patient 2 showed profound deafness and also carried a heterozygous mutation of the GJB2 gene responsible for autosomal recessive deafness 1A (DFNB1A: OMIM 220290). Could the disruption of a gene present in the 2q24.2q24.3 deleted region be responsible for her profound hearing loss?
间质2q24.2q24.3微缺失是罕见的细胞遗传学畸变，其临床特征因缺失大小而异。在此，我们描述了2例具有重叠的新发2q24.2q24.3缺失的患者，并通过比较基因组杂交阵列（array-CGH）进行了特征分析。这是文献中描述的最小的2q24.2q24.3重叠区域，仅包含9个基因（SLC4A10、DPP4、GCG、FAP、IFI1H、GCA、KCNH7、FIGN、GRB14）。我们将注意力集中在与神经学特征相关的SLC4A10、DPP4和KCNH7基因上。我们的患者表现出相似的特征：智力残疾、发育和语言迟缓、肌张力减退、关节松弛和畸形特征。只有患者2表现出严重耳聋，并且还携带了导致常染色体隐性耳聋1A（DFNB1A：OMIM 220290）的GJB2基因杂合突变。2q24.2q24.3缺失区域中存在的一个基因的破坏会导致她严重的听力丧失吗？
