PMID- 7902670
OWN - NLM
STAT- MEDLINE
DCOM- 19931230
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 53
IP  - 6
DP  - 1993 Dec
TI  - Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).
PG  - 1167-72
AB  - Families in which both parents are heterozygotes for the same autosomal dominant 
      neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity 
      to evaluate three symptomatic siblings from the union between two unrelated 
      individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the 
      three siblings and their parents and relatives were genotyped for 12 markers 
      tightly linked to the MEN1 locus, at 11q13, two of the siblings were found to be 
      homozygotes, and one a heterozygote, for MEN1. With regard to the MEN1 syndrome, 
      no phenotypic differences were observed between the two homozygotes and the 
      heterozygotes. However, the two homozygotes showed unexplained infertility, which 
      was not the case for any of the heterozygotes. Thus, MEN1 appears to be a disease 
      with complete dominance, and the presence of two MEN1 alleles with mutations of 
      the type that occur constitutionally may be insufficient for tumor development.
FAU - Brandi, M L
AU  - Brandi ML
AD  - Department of Clinical Physiopathology, University of Florence, Italy.
FAU - Weber, G
AU  - Weber G
FAU - Svensson, A
AU  - Svensson A
FAU - Falchetti, A
AU  - Falchetti A
FAU - Tonelli, F
AU  - Tonelli F
FAU - Castello, R
AU  - Castello R
FAU - Furlani, L
AU  - Furlani L
FAU - Scappaticci, S
AU  - Scappaticci S
FAU - Fraccaro, M
AU  - Fraccaro M
FAU - Larsson, C
AU  - Larsson C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
GS  - MEN1
MH  - Adrenal Cortex Neoplasms/genetics
MH  - Adult
MH  - Aged
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - *Genes, Dominant
MH  - Genetic Markers
MH  - Genotype
MH  - Haplotypes
MH  - *Homozygote
MH  - Humans
MH  - Hypercalcemia/genetics
MH  - Hyperparathyroidism/genetics/surgery
MH  - Hyperplasia
MH  - Infertility/genetics
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia/*genetics
MH  - Pancreatic Neoplasms/*genetics
MH  - Parathyroid Glands/pathology
MH  - Pedigree
MH  - Pituitary Neoplasms/genetics
MH  - Polymorphism, Restriction Fragment Length
PMC - PMC1682503
EDAT- 1993/12/01 00:00
MHDA- 1993/12/01 00:01
PMCR- 1994/06/01
CRDT- 1993/12/01 00:00
PHST- 1993/12/01 00:00 [pubmed]
PHST- 1993/12/01 00:01 [medline]
PHST- 1993/12/01 00:00 [entrez]
PHST- 1994/06/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1993 Dec;53(6):1167-72.