PubMed:10232405 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10232405-5#56#65#geners121909231","span":{"begin":698,"end":707},"obj":"geners121909231"},{"id":"10232405-5#190#192#diseaseC0018553","span":{"begin":832,"end":834},"obj":"diseaseC0018553"},{"id":"10232405-5#197#221#diseaseC0391826","span":{"begin":839,"end":863},"obj":"diseaseC0391826"}],"relations":[{"id":"56#65#geners121909231190#192#diseaseC0018553","pred":"associated_with","subj":"10232405-5#56#65#geners121909231","obj":"10232405-5#190#192#diseaseC0018553"},{"id":"56#65#geners121909231197#221#diseaseC0391826","pred":"associated_with","subj":"10232405-5#56#65#geners121909231","obj":"10232405-5#197#221#diseaseC0391826"}],"text":"Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.\nGermline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C--\u003eT (nonsense mutation) and 209+5G--\u003eA (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10232405-0#18#22#gene5728","span":{"begin":18,"end":22},"obj":"gene5728"},{"id":"10232405-0#55#79#diseaseC0265326","span":{"begin":55,"end":79},"obj":"diseaseC0265326"},{"id":"10232405-6#110#114#gene5728","span":{"begin":975,"end":979},"obj":"gene5728"},{"id":"10232405-6#71#73#diseaseC0018553","span":{"begin":936,"end":938},"obj":"diseaseC0018553"}],"relations":[{"id":"18#22#gene572855#79#diseaseC0265326","pred":"associated_with","subj":"10232405-0#18#22#gene5728","obj":"10232405-0#55#79#diseaseC0265326"},{"id":"110#114#gene572871#73#diseaseC0018553","pred":"associated_with","subj":"10232405-6#110#114#gene5728","obj":"10232405-6#71#73#diseaseC0018553"}],"text":"Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.\nGermline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C--\u003eT (nonsense mutation) and 209+5G--\u003eA (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":18,"end":22},"obj":"gene:5728"},{"id":"T1","span":{"begin":55,"end":79},"obj":"disease:C0265326"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.\nGermline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C--\u003eT (nonsense mutation) and 209+5G--\u003eA (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":120,"end":125},"obj":"HP_0002664"},{"id":"T2","span":{"begin":168,"end":186},"obj":"HP_0000006"},{"id":"T3","span":{"begin":168,"end":196},"obj":"HP_0000006"},{"id":"T4","span":{"begin":197,"end":206},"obj":"HP_0010566"}],"text":"Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.\nGermline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C--\u003eT (nonsense mutation) and 209+5G--\u003eA (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder."}