Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

• Published in: American journal of medical genetics 1998-12, Vol.80 (4), p.399-402
• Main Authors: Zori, Roberto T., Marsh, Debbie J., Graham, Gail E., Marliss, Errol B., Eng, Charis
• Format: Article
• Language: English
• Subjects: Adolescent; Bannayan-Riley-Ruvalcaba syndrome; Bannayan-Zonana syndrome; Biological and medical sciences; Complex syndromes; Cowden disease; Family Health; Gastrointestinal Diseases - complications; Gastrointestinal Diseases - genetics; Germ-Line Mutation; Hamartoma Syndrome, Multiple - complications; Hamartoma Syndrome, Multiple - genetics; Humans; Learning Disorders - complications; Learning Disorders - genetics; Male; Medical genetics; Medical sciences; Phosphoric Monoester Hydrolases - genetics; Pigmentation Disorders - complications; Pigmentation Disorders - genetics; polyposis; PTEN; PTEN Phosphohydrolase; Ruvalcaba-Myhre syndrome; Syndrome; thyroid cancer; Thyroid Diseases - complications; Thyroid Diseases - genetics; Tumor Suppressor Proteins
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19981204)80:4<399::AID-AJMG18>3.0.CO;2-O

Clinical overlap between Cowden disease and Bannayan‐Riley‐Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan‐Riley‐Ruvalcaba syndrome. We report on a mother with Cowden disease and a son with Bannayan‐Riley‐Ruvalcaba syndrome. Mutation analysis of the PTEN gene demonstrated a heterozygous nonsense mutation R130X in both individuals. This might suggest that Cowden disease and Bannayan‐Riley‐Ruvalcaba syndrome are one causal entity. Am. J. Med. Genet. 80:399–402, 1998. © 1998 Wiley‐Liss, Inc.