Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps

Review Genetics & Heredity

Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome

Ulrika S. S. Petersen et al.

Summary: Accurate pre-mRNA splicing is crucial for normal gene expression. Activation of pseudoexons, nonfunctional intronic sequences, poses a risk of disease, but is challenging to predict and often goes undetected. Pseudoexon activation is mainly based on deep intronic sequence variants and is commonly missed by conventional diagnostic procedures, making it an underreported disease mechanism.

HUMAN MUTATION (2022)

Add to Collection

Article Gastroenterology & Hepatology

Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer

C. Richard Boland et al.

Summary: Gastrointestinal hamartomatous polyposis syndromes are rare genetic disorders associated with an increased risk of intestinal and extraintestinal tumors. The diagnosis is based on clinical criteria and genetic testing. The treatment focuses on preventing bleeding and obstruction, as well as monitoring for cancer risk. Management recommendations for these syndromes are limited.

GASTROINTESTINAL ENDOSCOPY (2022)

Add to Collection

Review Genetics & Heredity