Publications by authors named "A C V Krepischi"
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial role in repression of gene transcription in a highly tissue- and temporal-specific manner. Mutations resulting in heterozygous loss-of-function (LoF) of EHMT1 are implicated in Kleefstra syndrome 1 (KS1).
View Article and Find Full Text PDFSplit hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings.
View Article and Find Full Text PDFThe mechanisms involved with the pathogenesis of carcinoma ex pleomorphic adenoma (CXPA) seem to be associated with the accumulation of molecular alterations in the pleomorphic adenoma (PA). In this sense, using array-based comparative genomic hybridization (aCGH) a rare series of 27 cases of CXPA and 14 residual PA (rPA) adjacent to the transformation area, we investigated the profile of the copy number alterations (CNAs) comparing benign residual and transformed areas. The main findings were correlated with the histopathological classification by histologic subtype and degree of invasion.
View Article and Find Full Text PDFArticle Synopsis
- Low-pass whole genome sequencing (LP-WGS) offers a cheaper method for detecting copy number variants (CNVs) compared to chromosomal microarray analysis (CMA), providing similar resolution for CNV detection.
- In a study with 1,363 patients experiencing neurodevelopmental challenges, LP-WGS yielded a positive result in 22% of cases, with 16% being diagnostic for pathogenic CNVs, comparable to CMA's diagnostic rates.
- The study highlights LP-WGS as a practical solution for countries like Brazil where CMA costs are high, making it easier to implement in clinical settings with the help of commercial software.
Objectives: The etiology of central precocious puberty (CPP) has expanded with identification of new genetic causes, including the monogenic deficiency of Makorin-Ring-Finger-Protein-3 (MKRN3). We aimed to assess the prevalence of CPP causes and the predictors of genetic involvement in this phenotype.
Design: A retrospective cohort study for an etiological survey of patients with CPP from a single academic center.