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ANOTAÇÃO GENÉTICA, FUNCIONAL E MOLECULAR DE GENES ASSOCIADOS COM A SÍNDROME DE DELEÇÃO DO BRAÇO CURTO DO CROMOSSOMO 9

MASSON, Isabeli do Nascimento ¹; HERAI, Roberto Hirochi ³; OLIVEIRA, Mayara Madureira de ³; OLIVEIRA, Mayara Madureira de ³; VAZ, Isadora May ²
Curso do(a) Estudante: Biotecnologia – Escola de Medicina e Ciências da Vida – Câmpus Curitiba
Curso do(a) Orientador(a): PPGCS – Escola de Medicina e Ciências da Vida – Câmpus Curitiba

INTRODUCTION: 9p Deletion Syndrome (9p-) is a rare structural chromosomal anomaly characterized by the total or partial deletion of genetic material on the short arm (“p”) of chromosome 9. Clinically, delayed neurodevelopment and craniofacial dysmorphisms are frequently observed in affected individuals. However, there is a lack of information about the correlations between genotype and phenotype. There is also limited understanding of the “critical region” (the minimal commonly deleted region in 9p- individuals) and how it influences the syndrome’s symptomatology. AIMS: Thus, the aim of this research was to conduct an in silico analysis to identify and functionally annotate the genes located in the commonly deleted region of 9p Deletion Syndrome. MATERIALS AND METHODS: After searching journal databases (PubMed) and using bioinformatics tools (GeneCards, MalaCards, and The Human Protein Atlas), a list of all genes in chromosome 9p (from band 9p24.3 to 9p11), including the proposed critical region (9p22 to 9p24.3), was extracted, along with detailed data on gene functions, metabolic pathways, associated disorders, tissue expression, and evidence from the literature. RESULTS: After analyzing and validating the correlations between alterations and clinical findings, several genotype-phenotype associations were identified. DOCK8, KANK1, VLDLR, FOXD4, and SMARCA2 are related to neurodevelopmental conditions; FREM1 and CER1 to trigonocephaly; and DMRT1, DMRT2, and DMRT3 to sexual reversal. Gene expression analysis revealed that highly expressed genes in relevant tissues, particularly the brain, are more frequently associated with significant phenotypes. Conversely, genes with low expression showed limited or no direct association with clinical features. Discrepancies were noted between database entries (GeneCards and MalaCards) and scientific literature, particularly for understudied genes, pseudogenes, and antisense RNAs. This work also contributes to deepening the understanding of the critical region for 9p-, in agreement with previous studies that define it as spanning bands 9p22–9p24.3 and supports future research on the syndrome. FINAL CONSIDERATIONS: Although based on in silico analysis, these findings enhance our understanding of the molecular basis of 9p Deletion Syndrome by integrating gene function, expression patterns, and phenotype correlations. This work also lays the groundwork for future functional studies and may contribute to improved clinical diagnostics and therapeutic strategies for individuals affected by this rare chromosomal disorder.

KEYWORDS: 9p Deletion Syndrome; Genotype-phenotype; Chromosome 9; Neurodevelopment; In silico.

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