Method for Predicting Pathogenic Missense Variants Using Online Tools: AURKA Gene as a Model.

Background: analysis provides a fast, simple, and cost-free method for identifying potentially pathogenic single nucleotide variants.

Objective: To propose a simple and relatively fast method for the prediction of variant pathogenicity using free online (IS) tools with gene as a model.

Materials And Methods: We aim to propose a methodology to predict variants with high pathogenic potential using computational analysis, using gene as model.

Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer.

Purpose: Association between variants rs1047972 and rs8173 of the gene in healthy women and breast cancer (BC) in a Mexican population.

Methods: Genomic DNA samples from 409 healthy women and 572 patients with BC were analyzed for variants rs1047972 and rs8173 of the gene by polymerase chain reaction-restriction fragment length polymorphism.

Results: TT genotype (odds ratio [OR], 2.

Association between the Polymorphisms rs2070744, 4b/a and rs1799983 of the Gene with Chronic Kidney Disease of Uncertain or Non-Traditional Etiology in Mexican Patients.

: Chronic Kidney Disease of uncertain or non-traditional etiology (CKDnT) is a form of chronic kidney disease of undetermined etiology (CKDu) and is not associated with traditional risk factors. The aim of this study was to investigate the association of polymorphisms rs2070744, 4b/a and rs1799983 of the gene with CKDnT in Mexican patients. : We included 105 patients with CKDnT and 90 controls.

Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.

Splicing-related gene mutations might affect the expression of a single gene or multiple genes and cause clinically heterogeneous diseases. With the advent of next-generation sequencing, several splicing gene mutations have been exposed, yet most major spliceosome genes have no reports of germline mutations and therefore, their effects are largely unknown. We describe the previously unreported concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in 2 female siblings with 3 homozygous missense variants in SNRPA (a component of the U1 small nuclear ribonucleoprotein complex) characterized by homozygosity mapping and whole exome sequencing.

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity.