A novel mutation of the MEN1 gene in a Chinese kindred with multiple endocrine neoplasia type 1.
Germline mutations in the MEN1 gene are well documented as the genetic cause of multiple endocrine neoplasia type 1 (MEN1). In this study, we performed genetic analysis by direct MEN1 gene mutation analysis on a Chinese MEN1 family. The two patients in this family were diagnosed as MEN1 by the typical clinical findings of parathyroidoma, insulinoma and pituitary adenoma. The coding sequences, including 9 coding exons and exon/intron boundaries of the MEN1 gene were amplified by polymerase chain reaction (PCR) and subjected to direct sequencing. Sequence analysis showed a same novel insertion mutation in exon 3 (c.433_434ins CTTC) in both patients, resulting in an open reading frames shift and produced a premature termination codon. None of the other family members had this insert mutation. In conclusion, we add a new mutation of MEN1 gene in Chinese patients with MEN1, and it would be useful for the diagnosis of the disease.
Xu
Lei
L
Department of Endocrinology, Affiliated East Hospital, Tongji University, Shanghai, China.
Li
Xu
X
Feng
Bo
B
Ni
Yafang
Y
Wang
Hua
H
Wang
Lin
L
D000236:Adenoma / Q000235:genetics; D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000601:surgery; D010282:Parathyroid Neoplasms / Q000601:surgery; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics
D018389:Codon, Nonsense