Related Experiment Video

Updated: Sep 15, 2025

Isolation of Neonatal Extrahepatic Cholangiocytes

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and

Ariel Tarrell¹, Jessika Weber², Reem Shawar²

¹Department of Pediatrics, Division of Neonatology, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.

Case Reports in Genetics

|July 15, 2025

Abstract:

Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next-generation sequencing. We present a rare cause of neonatal liver disease, a FOCAD gene variant, that was determined to be the most likely cause of an infant's liver disease and other findings. This case adds to only a few reports in the literature on this presentation in the neonatal period.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

Related Concept Videos

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Diseases of the Liver and Gallbladder

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Genetic Lingo

Genetic Lingo

Fetal Circulation

Fetal Circulation

Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...

Articles linked to this work by shared authors, journal, and citation graph.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

European journal of human genetics : EJHG·2026

Health Care Utilization in Adults With Congenital Heart Disease: Population-Based Findings.

Birth defects research·2026

Pediatric oral cavity physiologically based pharmacokinetic model to predict pharmacokinetics of mucoadhesive atropine gel to treat sialorrhea.

Journal of pharmacokinetics and pharmacodynamics·2026

Potential Risk Factors for Total Anomalous Pulmonary Venous Return: National Birth Defects Prevention Study, 1997-2011 and the Birth Defects Study to Evaluate Pregnancy Exposures, 2014-2021.

Birth defects research·2026

Results of an Exploratory Crossover Pharmacokinetic Study Evaluating a Natural Hemp Extract-Based Cosmetic Product: Comparison of Topical and Oral Routes of Administration.

Pharmaceuticals (Basel, Switzerland)·2026

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

American journal of human genetics·2026

See all related articles