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Shared Features Found Across CTNNB1-Related Neurodevelopmental Disorders

For a paper appearing in Genetics in Medicine, investigators at the University of Adelaide and other international centers explore clinical heterogeneity across neurodevelopmental conditions linked to pathogenic or likely pathogenic germline variants in CTNNB1. Using detailed phenotypic data and genetic tests for 52 individuals with loss-of-function CTNNB1 variants, along with published data for more than 350 more CTNNB1-related neurodevelopmental conditions, the team saw similar features in patients with CTNNB1-related conditions such as "neurodevelopmental disorder with spastic diplegia and visual defects" (NEDSDV) or monogenic cerebral palsy (CP). "A diagnosis of CP was not significantly associated with any set of traits that defined a specific phenotypic subgroup, indicating that CP is not additional to NEDSDV," the authors report, adding that at least two of the 392 CTNNB1 mutations considered "were dominant negative regulators of WNT signaling."

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.