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Clin Res Hepatol Gastroenterol 2021 Mar 3:101658. Epub 2021 Mar 3.

Division of Gastroenterology and Hepatology, Mayo Clinic, 500 San Pablo Rd S, Jacksonville, FL 32224, United States. Electronic address:

Introduction And Objectives: The goal of this study was to assess lifestyle habits and physician counseling of patients with hereditary hemochromatosis (HH), and determine the prevalence of direct-to-consumer (DTC) genetic testing.

Materials And Methods: A 52-question survey was created to collect information on lifestyle habits and physician counseling among patients with HH, and the use of DTC genetic testing of patients referred to a clinic for evaluation of HH. A multivariate logistic regression model was applied to identify predictors of DTC genetic testing use. Read More

Genet Med 2021 Mar 5. Epub 2021 Mar 5.

Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.

Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed.

Results: Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Read More

BMC Cardiovasc Disord 2021 Mar 5;21(1):126. Epub 2021 Mar 5.

Blueprint Genetics, a Quest Diagnostics Company, Keilaranta 16 A-B, 02150, Espoo, Finland.

Background: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. Read More

Genes (Basel) 2021 Feb 20;12(2). Epub 2021 Feb 20.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.

CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the gene in mammalian physiology remains largely unclear. Here, we report the genetic and functional characterization of a non-consanguineous Saudi family with a single affected individual. Read More

Cancers (Basel) 2021 Feb 23;13(4). Epub 2021 Feb 23.

Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland.

Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Read More