Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.

Objective: The aim of this longitudinal study was to characterize the dento-osseous phenotype of eleven familial adenomatous polyposis (FAP) patients and twenty-two family members from four Brazilian families who were followed over nine years and to investigate adenomatous polyposis coli (APC) gene variants using a targeted next-generation sequencing approach.

Materials And Methods: Medical and dental history, oral examination, and panoramic radiography were performed to diagnose and follow up the dento-osseous anomalies. The anomalies were evaluated following the validated diagnostic tool dental panoramic radiographic score (DPRS), a system developed for high-risk FAP patients.

Protocols for Genetic and Epigenetic Studies of Rare Diseases Affecting Dental Tissues.

This chapter describes methods related to the diagnosis of genetic dental diseases. Based on the present knowledge, clinical phenotyping and next-generation sequencing techniques are discussed. Methods necessary for Sanger sequencing, multiplex ligation-dependent probe amplification, and epigenetic modification methods are detailed.

Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.

Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle's loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of calcium and magnesium, nephrocalcinosis, chronic kidney disease, and early progression to end-stage renal failure during infancy.

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening.

Genetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high incidence of BC in the city of Porto Alegre in southern Brazil, the purpose of this study was to characterize genotypic and allelic frequencies of polymorphisms in GSTM1, GSTT1, and GSTP1, and correlate these molecular findings with established risk factors for breast cancer including mammographic density, in a sample of 750 asymptomatic women undergoing mammographic screening. Molecular tests were performed using the multiplex polymerase chain reaction (PCR) for GSTM1 and GSTT1, and quantitative PCR for GSTP1 polymorphisms.

MTHFR C677T is not a risk factor for autism spectrum disorders in South Brazil.

Many studies have suggested that autism may be associated with metabolic abnormalities in the folate/homocysteine pathway, which is involved in DNA methylation, thus altering gene expression. One of the most important polymorphisms in this pathway is C677T of the methylenetetrahydrofolate reductase gene, because the T allele is associated with a decrease in enzymatic activity. We evaluated the association between C677T polymorphism and autism spectrum disorders through a case--control study.