The Application of Clinical Genetics (Jul 2024)
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report
Abstract
Gabriela Ręka, Katarzyna Wojciechowska, Monika Lejman Independent Laboratory of Genetic Diagnostics of the Second Chair of Pediatrics, Medical University of Lublin, Lublin, PolandCorrespondence: Gabriela Ręka, Independent Laboratory of Genetic Diagnostics of the Second Chair of Pediatrics, Medical University of Lublin, Poland, University Children’s Hospital, Profesor Antoni Gębala Street 6, Lublin, 20-093, Poland, Tel +48 81 718 52 11, Email [email protected]: 2p15p16.1 microdeletion syndrome was described for the first time in 2007. The size of the microdeletion is variable and encompasses several genes, like XPO1, USP34, BCL11A, REL, PAPOLG, PEX13, COMMD1, B3GNT2, and EHBP1. Features of the syndrome include short stature, microcephaly, hypotonia, psychomotor developmental delay, anomalies of the fingers of the upper and lower limbs, dysmorphic features like receding forehead, broad nasal bridge, telecanthus, ptosis, flat philtrum, small mouth with a high, narrow palate and everted lower lip. The precise genotype–phenotype correlation in 2p15 deletion syndrome is not understood. The aim of the study is to present the patient’s medical history and the diagnostic process.Case Presentation: A boy aged 9 was admitted to the Genetic Outpatient Clinic due to dysmorphic features and mild mental retardation. Full lips, broad nasal root, very light hair, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap, brachydactyly, and problems with concentration, memory, and counting were found. Diagnosis was based on microarray testing, and copy-number variation analysis was performed using CytoScan 750K array. Genetic imbalance in the form of a deletion within the short arm of chromosome 2 in the 2p15 region (containing 50 kbp) was shown. The microdeletion covers 2 genes: USP34 and XPO1. Parents were not carriers of that mutation.Conclusion: The phenotypic features presented by the patient were reflected in the genetic test. 2p15 microdeletion syndrome is genetically heterogeneous with possible de novo occurrence, as in the presented case. The precise genotype–phenotype correlation in 2p15 deletion syndrome should be widely studied because in the literature there is mainly mentioned 2p15p16.1 syndrome. Even though 2p15 microdeletion syndrome is a rare discovery and its features are mainly mild, it is necessary to pay special attention to them to refer patients to genetic counseling to make an accurate diagnosis.Keywords: 2p15 microdeletion syndrome, dysmorphia, mental retardation, microarrays, XPO1, USP34
