PMID- 10482964
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20091119
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 6
DP  - 1999 Sep
TI  - Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor
      1alpha gene: implications for predictive testing.
PG  - 729-32
AB  - The most common cause of maturity-onset diabetes of the young (MODY) is a
      mutation in the hepatic nuclear factor 1alpha (HNF1alpha) gene (MODY3). We
      describe a family in which a missense mutation causing a Thr-Ile substitution at 
      codon 620 has been found in all affected members. The mutation is not fully
      penetrant as two family members aged 87 and 46 have the mutation but do not have 
      diabetes. The severity and age of diagnosis of diabetes varies widely within the 
      family, and most presented over the age of 25. HNF1alpha mutation screening
      should be considered in any family with autosomal dominant inheritance of
      diabetes where one member has presented with diabetes before the age of 25.
      Predictive testing is now possible within the majority of MODY families, and is
      of clinical benefit, but the possibility of non-penetrance should be addressed
      during counselling and interpretation of results.
FAU - Miedzybrodzka, Z
AU  - Miedzybrodzka Z
AD  - Medical Genetics, University of Aberdeen Medical School, Scotland, UK.
      zosia@abdn.ac.uk
FAU - Hattersley, A T
AU  - Hattersley AT
FAU - Ellard, S
AU  - Ellard S
FAU - Pearson, D
AU  - Pearson D
FAU - de Silva, D
AU  - de Silva D
FAU - Harvey, R
AU  - Harvey R
FAU - Haites, N
AU  - Haites N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (HNF1A protein, human)
RN  - 0 (HNF1B protein, human)
RN  - 0 (Hepatocyte Nuclear Factor 1-alpha)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - 126548-29-6 (Hepatocyte Nuclear Factor 1)
RN  - 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Aged, 80 and over
MH  - DNA Mutational Analysis
MH  - *DNA-Binding Proteins
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - Genes, Dominant
MH  - Genetic Testing
MH  - Genetic Variation
MH  - Glucose Tolerance Test
MH  - Hepatocyte Nuclear Factor 1
MH  - Hepatocyte Nuclear Factor 1-alpha
MH  - Hepatocyte Nuclear Factor 1-beta
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Mutation, Missense
MH  - *Nuclear Proteins
MH  - Pedigree
MH  - *Penetrance
MH  - Phenotype
MH  - Transcription Factors/*genetics
EDAT- 1999/09/14 00:00
MHDA- 1999/09/14 00:01
CRDT- 1999/09/14 00:00
PHST- 1999/09/14 00:00 [pubmed]
PHST- 1999/09/14 00:01 [medline]
PHST- 1999/09/14 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200358 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Sep;7(6):729-32. doi: 10.1038/sj.ejhg.5200358.