Advanced practice providers in the medical genetics workforce: A nationwide survey.

Purpose: This study characterizes the current landscape of genetics advanced practice providers (APPs) in the United States.

Methods: A 35-question survey was emailed to the Genetics APP Listserv in the fall of 2023. Questions represented 5 domains: demographics, practice, onboarding, compensation, and perceptions.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease.

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of -acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondroitin-6-sulfate. Homozygous or compound heterozygous pathogenic variants in the result in the deficiency of the enzyme and consequent GAG accumulations. DNA sequence and copy number analysis of the coding region fails to identify biallelic causative pathogenic variants in up to 15% of patients with Morquio syndrome A.

Incidence of bisphosphonate-associated osteonecrosis of the jaws in breast cancer patients.

Background: Bisphosphonate-associated osteonecrosis of the jaws (BP-ONJ) is a relatively new disease. The aim of this study was to evaluate the prevalence of BP-ONJ in breast cancer patients with osseous metastasis and bisphosphonate therapy.

Methods: A retrospective study was conducted in a EUSOMA accredited breast unit in Germany.