PMID- 10234503
OWN - NLM
STAT- MEDLINE
DCOM- 19990628
LR  - 20161124
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 3
DP  - 1999 Apr
TI  - Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations
      with a mild aniridia phenotype.
PG  - 274-86
AB  - Mutations in the developmental control gene PAX6 have been shown to be the
      genetic cause of aniridia, which is a severe panocular eye disease characterised 
      by iris hypoplasia. The inheritance is autosomal dominant with high penetrance
      but variable expressivity. Here we describe a mutational analysis of 27 Danish
      patients using a dideoxy fingerprinting method, which identified PAX6 mutations
      in 18 individuals with aniridia. A thorough phenotype description was made for
      the 18 patients. A total of 19 mutations, of which 16 were novel, are described. 
      Among these were five missense mutations which tended to be associated with a
      milder aniridia phenotype, and in fact one of them seemed to be non-penetrant.
      Four of the five missense mutations were located in the paired domain. We also
      describe a third alternative spliced PAX6 isoform in which two of the four
      missense mutations would be spliced out. Our observations support the concept of 
      dosage effects of PAX6 mutations as well as presenting evidence for variable
      expressivity and gonadal mosaicism.
FAU - Gronskov, K
AU  - Gronskov K
AD  - Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark.
FAU - Rosenberg, T
AU  - Rosenberg T
FAU - Sand, A
AU  - Sand A
FAU - Brondum-Nielsen, K
AU  - Brondum-Nielsen K
LA  - eng
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 (Eye Proteins)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (PAX6 Transcription Factor)
RN  - 0 (PAX6 protein, human)
RN  - 0 (Paired Box Transcription Factors)
RN  - 0 (Protein Isoforms)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - Alternative Splicing
MH  - Aniridia/*genetics/physiopathology
MH  - DNA Fingerprinting
MH  - DNA-Binding Proteins/*genetics
MH  - Eye Proteins
MH  - *Homeodomain Proteins
MH  - Humans
MH  - Mutagenesis, Insertional
MH  - *Mutation
MH  - Mutation, Missense
MH  - PAX6 Transcription Factor
MH  - Paired Box Transcription Factors
MH  - Phenotype
MH  - Protein Isoforms
MH  - Repressor Proteins
MH  - Sequence Deletion
EDAT- 1999/05/11 00:00
MHDA- 1999/05/11 00:01
CRDT- 1999/05/11 00:00
PHST- 1999/05/11 00:00 [pubmed]
PHST- 1999/05/11 00:01 [medline]
PHST- 1999/05/11 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200308 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Apr;7(3):274-86. doi: 10.1038/sj.ejhg.5200308.