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

Autor:	R T, Zori, D J, Marsh, G E, Graham, E B, Marliss, C, Eng
Rok vydání:	1998
Předmět:	Family Health Male Adolescent Gastrointestinal Diseases Learning Disabilities Tumor Suppressor Proteins PTEN Phosphohydrolase Syndrome Thyroid Diseases Phosphoric Monoester Hydrolases Humans Hamartoma Syndrome Multiple Pigmentation Disorders Germ-Line Mutation
Zdroj:	American journal of medical genetics. 80(4)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::ef0a640edb72768493ed0be69740eb0a https://pubmed.ncbi.nlm.nih.gov/9856571 Zobrazit plný text záznamu Plný text