PMID- 12807514 OWN - NLM STAT- MEDLINE DCOM- 20031007 LR - 20190813 IS - 0300-0664 (Print) IS - 0300-0664 (Linking) VI - 59 IP - 1 DP - 2003 Jul TI - Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese. PG - 129-35 AB - OBJECTIVE: 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. FAU - Tso, A W K AU - Tso AW AD - Department of Medicine, University of Hong Kong, and Department of Medicine, Queen Elizabeth Hospital, Hong Kong. FAU - Rong, R AU - Rong R FAU - Lo, C Y AU - Lo CY FAU - Tan, K C B AU - Tan KC FAU - Tiu, S C AU - Tiu SC FAU - Wat, N M S AU - Wat NM FAU - Xu, J Y AU - Xu JY FAU - Villablanca, A AU - Villablanca A FAU - Larsson, C AU - Larsson C FAU - Teh, B T AU - Teh BT FAU - Lam, K S L AU - Lam KS LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Clin Endocrinol (Oxf) JT - Clinical endocrinology JID - 0346653 RN - 0 (Codon, Nonsense) SB - IM MH - Adult MH - Aged MH - China MH - Codon, Nonsense MH - DNA Mutational Analysis/methods MH - Diseases in Twins/*genetics MH - Female MH - Frameshift Mutation MH - *Germ-Line Mutation MH - Humans MH - Male MH - Middle Aged MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - Mutation, Missense MH - Pedigree MH - Polymorphism, Genetic EDAT- 2003/06/17 05:00 MHDA- 2003/10/08 05:00 CRDT- 2003/06/17 05:00 PHST- 2003/06/17 05:00 [pubmed] PHST- 2003/10/08 05:00 [medline] PHST- 2003/06/17 05:00 [entrez] AID - 1812 [pii] AID - 10.1046/j.1365-2265.2003.01812.x [doi] PST - ppublish SO - Clin Endocrinol (Oxf). 2003 Jul;59(1):129-35. doi: 10.1046/j.1365-2265.2003.01812.x.