PMID- 9709921
OWN - NLM
STAT- MEDLINE
DCOM- 19980902
LR  - 20061115
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 83
IP  - 8
DP  - 1998 Aug
TI  - Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, 
      familial acromegaly and familial isolated hyperparathyroidism.
PG  - 2621-6
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease 
      characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and 
      the anterior pituitary gland. In addition, families with isolated endocrine 
      neoplasia, notably familial isolated hyperparathyroidism (FIHP) and familial 
      acromegaly, have also been reported. However, whether these families constitute 
      MEN 1 variants or separate entities remains speculative as the genetic bases for 
      these diseases are unclear. The gene for MEN 1 has recently been cloned and 
      characterized. Using single strand conformation analysis (SSCA) and sequencing, 
      we performed mutation analysis in: a) a total of 55 MEN 1 families from 7 
      countries, b) 13 isolated MEN 1 cases without family history of the disease, c) 8 
      acromegaly families, and d) 4 FIHP families. Mutations were identified in 27 MEN 
      1 families and 9 isolated cases. The 22 different mutations spread across most of 
      the 9 translated exons and included frameshift (11), nonsense (6), splice (2), 
      missense mutations (2), and in-frame deletions (1). Among the 19 Finnish MEN 1 
      probands, a 1466del12 mutation was identified in 6 families with identical 11q13 
      haplotypes and in 2 isolated cases indicating a common founder. One frameshift 
      mutation caused by 359del4 (GTCT) was found in 1 isolated case and 4 kindreds of 
      different origin and haplotypes; this mutation therefore represents a common 
      "warm" spot in the MEN1 gene. By analyzing the DNA of the parents of an isolated 
      case one mutation was confirmed to be de novo. No mutation was found in any of 
      the acromegaly and small FIHP families, suggesting that genetic defects other 
      than the MEN1 gene might be involved and that additional such families need to be 
      analyzed.
FAU - Teh, B T
AU  - Teh BT
AD  - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
FAU - Kytola, S
AU  - Kytola S
FAU - Farnebo, F
AU  - Farnebo F
FAU - Bergman, L
AU  - Bergman L
FAU - Wong, F K
AU  - Wong FK
FAU - Weber, G
AU  - Weber G
FAU - Hayward, N
AU  - Hayward N
FAU - Larsson, C
AU  - Larsson C
FAU - Skogseid, B
AU  - Skogseid B
FAU - Beckers, A
AU  - Beckers A
FAU - Phelan, C
AU  - Phelan C
FAU - Edwards, M
AU  - Edwards M
FAU - Epstein, M
AU  - Epstein M
FAU - Alford, F
AU  - Alford F
FAU - Hurley, D
AU  - Hurley D
FAU - Grimmond, S
AU  - Grimmond S
FAU - Silins, G
AU  - Silins G
FAU - Walters, M
AU  - Walters M
FAU - Stewart, C
AU  - Stewart C
FAU - Cardinal, J
AU  - Cardinal J
FAU - Khodaei, S
AU  - Khodaei S
FAU - Parente, F
AU  - Parente F
FAU - Tranebjaerg, L
AU  - Tranebjaerg L
FAU - Jorde, R
AU  - Jorde R
FAU - Salmela, P
AU  - Salmela P
AU  - et al.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Genetic Markers)
SB  - IM
CIN - J Clin Endocrinol Metab. 1998 Aug;83(8):2617-20. PMID: 9709920
MH  - Acromegaly/*genetics
MH  - *DNA Mutational Analysis
MH  - Female
MH  - Frameshift Mutation
MH  - Gene Deletion
MH  - Genetic Markers
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Hyperparathyroidism/*genetics
MH  - Lod Score
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA Splicing
MH  - Sequence Analysis, DNA
EDAT- 1998/08/26 00:00
MHDA- 1998/08/26 00:01
CRDT- 1998/08/26 00:00
PHST- 1998/08/26 00:00 [pubmed]
PHST- 1998/08/26 00:01 [medline]
PHST- 1998/08/26 00:00 [entrez]
AID - 10.1210/jcem.83.8.5059 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1998 Aug;83(8):2621-6. doi: 10.1210/jcem.83.8.5059.