Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome

• Published in: Human genetics Vol. 107; no. 3; pp. 234 - 238
• Main Authors: CELEBI, Julide Tok, WANNER, Molly, XIAO LI PING, HONG ZHANG, PEACOCKE, Monica
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.09.2000; Berlin; New York, NY
• Subjects: Biological and medical sciences; Child; Complex syndromes; Exons; Female; Genes, Tumor Suppressor; Germ-Line Mutation; Hamartoma Syndrome, Multiple - genetics; Humans; Introns; Male; Medical genetics; Medical sciences; Phosphoric Monoester Hydrolases - genetics; Point Mutation; PTEN Phosphohydrolase; RNA Splicing - genetics; Syndrome; Tumor Suppressor Proteins; Pseudotumor; Human; Skin disease; Splicing; Nucleotide sequence; Family study; Chromosome C10; Genetic disease; Hamartoma; Messenger RNA; Autosomal character; Benign neoplasm; Mutation; Tumor suppressor gene

Cowden syndrome (CS) and Bannayan Zonana syndrome (BZS) are two autosomal dominantly inherited conditions characterized by hamartomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with phenotypic findings of both CS and BZS. These mutations...