Project description:The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix. In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay. Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. We review recent molecular advances in the recessive HRFC syndromes and discuss this hypothesis.

| S-EPMC1735460 | biostudies-other

The Genetic Architecture of Congenital Diarrhea and Enteropathy (CODE)

Project description:Next-generation sequencing (NGS) has supported precision therapeutic approaches that have improved the lives of children with rare diseases. Patients with congenital diarrhea and enteropathies (CODE) have a particularly difficult disease with high morbidity and mortality. However, there are now several targeted therapies including specific diets, pharmacological treatments, and surgical interventions that are based on an individual’s genetic diagnosis. We performed NGS on a large cohort of 139 infants with suspected monogenic congenital diarrheal disorders and identified known causal variants in 50% of cases, including a new founder NEUROG3 variant. We also uncovered and functionally characterized three novel CODE genes, GRWD1, MYO1A, and MON1A, using cell and zebrafish models.

2025-05-21 | GSE264461 | GEO

The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

Project description:The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

| PRJNA625348 | ENA

The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

Project description:The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

| PRJNA625349 | ENA