Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.

Leadership development in genetic counseling graduate programs.

Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training.

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.

The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogenomic testing. An online survey was developed and sent to health providers at institutions that offer clinical germline pharmacogenomic testing to assess current IC practices.

The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients.

Introduction: The University of Wisconsin Undiagnosed Disease Program employs a "beyond the exome" approach to diagnose rare disease patients.

Case Presentations: We present 2 cases of rare neurodevelopmental disorders identified by whole genome sequencing. The first is a 12-year-old boy with global developmental delay/intellectual disability (GDD/ID) and congenital hypotonia who was diagnosed with CAPZA2-related disorder.

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in requiring reinterpretation.

Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing genome-wide sequencing. Here we describe a case of severe, oligogenic neonatal thrombocytopenia and reinterpret a reportedly benign mutation that is likely pathogenic. Despite this patient's synonymous mutation ( 576 C>T, Phe192=) being annotated as benign, GFI1B is a well-known regulator of megakaryopoiesis, this variant alters splicing and megakaryocyte maturation, and our analysis of existing genome-wide associated studies demonstrates that it likely causes gray platelet syndrome.

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase () gene. pathogenic variant carriers are at an increased risk for cutaneous leiomyomas, renal cell cancer, and uterine fibroids. We present a case series of patients identified at two different medical institutions with clinically diagnostic features of HLRCC and a shared rare variant in the gene.

Habitat type and complexity drive fish assemblages in a tropical seascape.

Inshore marine seascapes support a diversity of interconnected habitats and are an important focus for biodiversity conservation. This study examines the importance of habitat attributes to fish assemblages across a mosaic of inshore habitats: coral reefs, rocky reefs, macroalgae beds and sand/rubble beds. Fishes and benthic habitats were surveyed at 34 sites around continental islands of the central Great Barrier Reef using baited remote underwater video stations (BRUVS).

An exploration of genetic counseling information needs and information-seeking behaviors.

Genetic counseling is a rapidly growing field with increasingly diverse practice settings. The growth of genomics and precision medicine across all medical specialties has been accompanied by corresponding growth in the amount of information available to genetic counselors. However, few published studies on genetic counseling information needs and seeking behaviors exist, and none look at information use across the profession.

Packaging of Dinoroseobacter shibae DNA into Gene Transfer Agent Particles Is Not Random.

Gene transfer agents (GTAs) are phage-like particles which contain a fragment of genomic DNA of the bacterial or archaeal producer and deliver this to a recipient cell. GTA gene clusters are present in the genomes of almost all marine Rhodobacteraceae (Roseobacters) and might be important contributors to horizontal gene transfer in the world's oceans. For all organisms studied so far, no obvious evidence of sequence specificity or other nonrandom process responsible for packaging genomic DNA into GTAs has been found.

Predators Exacerbate Competitive Interactions and Dominance Hierarchies between Two Coral Reef Fishes.

Predation and competition are critical processes influencing the ecology of organisms, and can play an integral role in shaping coral reef fish communities. This study compared the relative and interacting effects of competition and predation on two competing species of coral reef fish, Pomacentrus amboinensis and P. moluccensis (Pomacentridae), using a multifactorial experiment.

Clinical pathology reference intervals for an in-water population of juvenile loggerhead sea turtles (Caretta caretta) in Core Sound, North Carolina, USA.

The loggerhead sea turtle (Caretta caretta) is found throughout the waters of the Atlantic, Pacific, and Indian Oceans. It is a protected species throughout much of its range due to threats such as habitat loss, fisheries interactions, hatchling predation, and marine debris. Loggerheads that occur in the southeastern U.

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism.

Purpose: We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are not representative of the fetus.

Methods: We sought to confirm commercial cell-free fetal DNA testing results by chorionic villus sampling and amniocentesis.

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

Background: Many copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder. Chromosomal deletions of 1q21.1, 3q29, 15q13.