TY - JOUR
T1 - A novel germline mutation in exon 5 of the multiple endocrine neoplasia type 1 gene
AU - Chico, Ana
AU - Gallart, Luis
AU - Mato, Eugenia
AU - Mayoral, Carmen
AU - Martin-Campos, Jesus M.
AU - Catasús, Lluís
AU - Rodriguez-Espinosa, Jose
AU - Matías-Guiu, Xavier
AU - Blanco-Vaca, Francisco
AU - De Leiva, Alberto
PY - 1998/1/1
Y1 - 1998/1/1
N2 - The autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by neoplasia of parathyroids, anterior pituitary, and gastrointestinal and pancreatic neuroendocrine tissues. Recently the gene responsible for the MEN1 syndrome has been identified on chromosome region 11q13. Most of the described mutations are nucleotide substitutions and small deletions affecting exons 2 and 3, causing protein truncation. Only one mutation in exon 5 has been found, and this corresponds to a MEN1 sporadic case. Small insertions are also rare. We studied a MEN1 family composed of five members, two of whom were clinically affected. We found a new germline 1 basepair insertional mutation affecting the exon 5 of the MEN1 gene in the two members affected in this MEN1 family.
AB - The autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by neoplasia of parathyroids, anterior pituitary, and gastrointestinal and pancreatic neuroendocrine tissues. Recently the gene responsible for the MEN1 syndrome has been identified on chromosome region 11q13. Most of the described mutations are nucleotide substitutions and small deletions affecting exons 2 and 3, causing protein truncation. Only one mutation in exon 5 has been found, and this corresponds to a MEN1 sporadic case. Small insertions are also rare. We studied a MEN1 family composed of five members, two of whom were clinically affected. We found a new germline 1 basepair insertional mutation affecting the exon 5 of the MEN1 gene in the two members affected in this MEN1 family.
KW - Direct genetic analysis
KW - Familial cancer
KW - Germline mutations
KW - Hyperparathyroidism
KW - Molecular diagnosis
KW - Multiple endocrine neoplasia type 1
U2 - 10.1007/s001090050288
DO - 10.1007/s001090050288
M3 - Article
VL - 76
SP - 837
EP - 839
JO - Journal of Molecular Medicine
JF - Journal of Molecular Medicine
SN - 0946-2716
IS - 12
ER -