ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
Genetic Evaluation in a cohort of children affect by idiopatic short stature.
Carlo Bianco 1 , Giulia Aquisti 1 , Ilaria Montafia 1 , Federica Pagliero 1 , Simonetta Bellone 1 , Flavia Prodam 2 , Ivana Rabbone 1 , Cristina Partenope 1 & Antonella Petri 1
1SCDU Pediatria, Università del Piemonte Orientale - AOU Maggiore della Carità, Novara, Italy. 2Dipartimento di Scienza della Salute. Divisione di Endocrinologia, Università del Piemonte Orientale, Novara, Italy
Short stature is a common clinical presentation in children. New genetics approache such as “Next Generation Sequencing” have recently reported many monogenic defects in genes related to the growth plate cartilage and in GH-IGF-1 axis. The purpose of this study was to analyze a cohort of 64 patients (31 females and 33 males) affected by ISS. The patiens have been subjected to genetic investigations by performing an NGS panel of genes involved in growth, the evaluation of the phenotypic charachteristics of patients and their possible response to therapy. Results stratified by sex, height SDS was -2.05 for females and -2.03 for males. Twenty-seven patients (42%) were carrier of variants of uncertain clinical significance (VUS) and 7 patients (11%) were carrier of pathogenic (P) or likely pathogenic (LP) variants. The gene of which we most frequently detected a variant was FLNB (5 variants in 5 patients), encoding for filamin B, a protein involved in the cytoskeletal structure of cells. The second most frequent variant was the ACAN gene (3 variants in 3 patients), it encodes for aggrecan, a primary proteoglycan component specific for the structure of the cartilage growth plate, articular and intervertebral disk. Two patients underwent recombinant human growth hormone replacement therapy, associated with gonadotropin releasing hormone therapy, in order to block early growth cessation and therefore reach a better final height. The third most frequente variant was the CUL7 gene (3 variants in 3 patients), coding for the protein cullin7. This protein is involved in the processes of ubiquitination of damaged or excess intracytoplasmic proteins and in the regulation of major cellular activities such as the timing of cell division and growth.
Conclusion: Specific diagnoses allows the clinician to assess the best diagnostic pathway, to choose the most appropriate and targeted therapy, to provide prognostic information about the patient's growth, to understand any associated co-morbidities that may compromise the patient's health and to identify other affected family members.
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