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Article: Multiple endocrine neoplasia type 1 (MEN1): Genetic and clinical analysis in the Southern Chinese

TitleMultiple endocrine neoplasia type 1 (MEN1): Genetic and clinical analysis in the Southern Chinese
Authors
Issue Date2003
PublisherWiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0300-0664
Citation
Clinical Endocrinology, 2003, v. 59 n. 1, p. 129-135 How to Cite?
AbstractOBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is characterized by a triad of neoplasia affecting the parathyroid glands, enteropancreatic endocrine tissue and the anterior pituitary gland. DESIGN: In order to define the prevalence of MEN1 germ-line mutations in Southern Chinese patients with MEN1 syndrome, we performed direct sequencing of the entire open reading frame of the MEN1 gene for 12 index patients and their first-degree relatives. RESULTS: Six patients had familial MEN1 syndrome and six had apparently sporadic disease. Nine different germ-line mutations at the MEN1 gene were identified, including three novel mutations [248-249delTT in exon 2, K559X(AAG → TAG) in exon 10 and IVS 2nt + 2(G → T) in intron 2]. All patients with familial MEN1 syndrome were heterozygous carriers of a germ-line mutation and MEN1-related disorders were only evident in their first-degree relatives who also carried the mutation. All patients with an enteropancreatic lesion were mutation carriers and the absence of mutation in three apparently sporadic MEN1 patients with only hyperparathyroidism and pituitary microadenoma might represent the presence of MEN1 phenocopy. CONCLUSIONS: The finding of MEN1 germ-line mutation in all patients with familial MEN1 syndrome suggests that genetic screening should be useful in our population to identify affected individuals within a kindred and allow early detection of MEN1-related tumours.
Persistent Identifierhttp://hdl.handle.net/10722/162698
ISSN
2015 Impact Factor: 3.487
2015 SCImago Journal Rankings: 1.314
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTso, AWKen_HK
dc.contributor.authorRong, Ren_HK
dc.contributor.authorLo, CYen_HK
dc.contributor.authorTan, KCBen_HK
dc.contributor.authorTiu, SCen_HK
dc.contributor.authorWat, NMSen_HK
dc.contributor.authorXu, JYen_HK
dc.contributor.authorVillablanca, Aen_HK
dc.contributor.authorLarsson, Cen_HK
dc.contributor.authorTeh, BTen_HK
dc.contributor.authorLam, KSLen_HK
dc.date.accessioned2012-09-05T05:22:27Z-
dc.date.available2012-09-05T05:22:27Z-
dc.date.issued2003en_HK
dc.identifier.citationClinical Endocrinology, 2003, v. 59 n. 1, p. 129-135en_HK
dc.identifier.issn0300-0664en_HK
dc.identifier.urihttp://hdl.handle.net/10722/162698-
dc.description.abstractOBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is characterized by a triad of neoplasia affecting the parathyroid glands, enteropancreatic endocrine tissue and the anterior pituitary gland. DESIGN: In order to define the prevalence of MEN1 germ-line mutations in Southern Chinese patients with MEN1 syndrome, we performed direct sequencing of the entire open reading frame of the MEN1 gene for 12 index patients and their first-degree relatives. RESULTS: Six patients had familial MEN1 syndrome and six had apparently sporadic disease. Nine different germ-line mutations at the MEN1 gene were identified, including three novel mutations [248-249delTT in exon 2, K559X(AAG → TAG) in exon 10 and IVS 2nt + 2(G → T) in intron 2]. All patients with familial MEN1 syndrome were heterozygous carriers of a germ-line mutation and MEN1-related disorders were only evident in their first-degree relatives who also carried the mutation. All patients with an enteropancreatic lesion were mutation carriers and the absence of mutation in three apparently sporadic MEN1 patients with only hyperparathyroidism and pituitary microadenoma might represent the presence of MEN1 phenocopy. CONCLUSIONS: The finding of MEN1 germ-line mutation in all patients with familial MEN1 syndrome suggests that genetic screening should be useful in our population to identify affected individuals within a kindred and allow early detection of MEN1-related tumours.en_HK
dc.languageengen_US
dc.publisherWiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0300-0664en_HK
dc.relation.ispartofClinical Endocrinologyen_HK
dc.rightsClinical Endocrinology. Copyright © Blackwell Publishing Ltd.-
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshChinaen_US
dc.subject.meshCodon, Nonsenseen_US
dc.subject.meshDna Mutational Analysis - Methodsen_US
dc.subject.meshDiseases In Twins - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFrameshift Mutationen_US
dc.subject.meshGerm-Line Mutationen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMultiple Endocrine Neoplasia Type 1 - Geneticsen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.titleMultiple endocrine neoplasia type 1 (MEN1): Genetic and clinical analysis in the Southern Chineseen_HK
dc.typeArticleen_HK
dc.identifier.emailTso, AWK: awk.tso@gmail.comen_HK
dc.identifier.emailTan, KCB: kcbtan@hku.hken_HK
dc.identifier.emailLam, KSL: ksllam@hku.hken_HK
dc.identifier.authorityTso, AWK=rp00535en_HK
dc.identifier.authorityTan, KCB=rp00402en_HK
dc.identifier.authorityLam, KSL=rp00343en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1046/j.1365-2265.2003.01812.xen_HK
dc.identifier.pmid12807514-
dc.identifier.scopuseid_2-s2.0-0038434530en_HK
dc.identifier.hkuros91075-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0038434530&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume59en_HK
dc.identifier.issue1en_HK
dc.identifier.spage129en_HK
dc.identifier.epage135en_HK
dc.identifier.isiWOS:000183583200019-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridTso, AWK=6701371436en_HK
dc.identifier.scopusauthoridRong, R=7003938735en_HK
dc.identifier.scopusauthoridLo, CY=16417392800en_HK
dc.identifier.scopusauthoridTan, KCB=8082703100en_HK
dc.identifier.scopusauthoridTiu, SC=7003310747en_HK
dc.identifier.scopusauthoridWat, NMS=6602131754en_HK
dc.identifier.scopusauthoridXu, JY=8947805200en_HK
dc.identifier.scopusauthoridVillablanca, A=7003339781en_HK
dc.identifier.scopusauthoridLarsson, C=7201834826en_HK
dc.identifier.scopusauthoridTeh, BT=35393732200en_HK
dc.identifier.scopusauthoridLam, KSL=8082870600en_HK

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