PMID- 12386836
OWN - NLM
STAT- MEDLINE
DCOM- 20030331
LR  - 20220129
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 71
IP  - 5
DP  - 2002 Nov
TI  - Frequent chromosome aberrations revealed by molecular cytogenetic studies in 
      patients with aniridia.
PG  - 1138-49
AB  - Seventy-seven patients with aniridia, referred for cytogenetic analysis 
      predominantly to assess Wilms tumor risk, were studied by fluorescence in situ 
      hybridization (FISH), through use of a panel of cosmids encompassing the 
      aniridia-associated PAX6 gene, the Wilms tumor predisposition gene WT1, and 
      flanking markers, in distal chromosome 11p13. Thirty patients were found to be 
      chromosomally abnormal. Cytogenetically visible interstitial deletions involving 
      11p13 were found in 13 patients, 11 of which included WT1. A further 13 patients 
      had cryptic deletions detectable only by FISH, 3 of which included WT1. Six of 
      these, with deletions <500 kb, share a similar proximal breakpoint within a 
      cosmid containing the last 10 exons of PAX6 and part of the neighboring gene, 
      ELP4. Two of these six patients were mosaic for the deletion. The remaining four 
      had chromosomal rearrangements: an unbalanced translocation, t(11;13), with a 
      deletion including the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, 
      and mental retardation) region, and three balanced rearrangements with what 
      appear to be position effect breakpoints 3' of PAX6: (a) a t(7;11) with the 11p13 
      breakpoint approximately 30 kb downstream of PAX6, (b) a dir ins(12;11) with a 
      breakpoint >50 kb from PAX6, and (c) an inv(11)(p13q13) with a breakpoint >75 kb 
      downstream of PAX6. The proportion and spectrum of chromosome anomalies in 
      familial (4/14, or 28.5%) and sporadic (26/63, or 41%) cases are not 
      significantly different. An unexpectedly high frequency of chromosomal 
      rearrangements is associated with both sporadic and familial aniridia in this 
      cohort.
FAU - Crolla, John A
AU  - Crolla JA
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom. 
      John.Crolla@salisbury.nhs.uk
FAU - van Heyningen, Veronica
AU  - van Heyningen V
LA  - eng
SI  - OMIM/106200
SI  - OMIM/194072
SI  - RefSeq/NT_009237
GR  - MC_U127527199/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
DEP - 20021017
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
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 (Repressor Proteins)
RN  - 0 (WT1 Proteins)
SB  - IM
MH  - Aniridia/*genetics
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 11
MH  - Eye Proteins/genetics
MH  - Gene Rearrangement
MH  - Homeodomain Proteins/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Molecular Sequence Data
MH  - PAX6 Transcription Factor
MH  - Paired Box Transcription Factors
MH  - Repressor Proteins
MH  - Risk Factors
MH  - Sequence Deletion
MH  - WT1 Proteins/genetics
MH  - Wilms Tumor/genetics
PMC - PMC385089
EDAT- 2002/10/19 04:00
MHDA- 2003/04/01 05:00
PMCR- 2003/05/01
CRDT- 2002/10/19 04:00
PHST- 2002/06/17 00:00 [received]
PHST- 2002/08/21 00:00 [accepted]
PHST- 2002/10/19 04:00 [pubmed]
PHST- 2003/04/01 05:00 [medline]
PHST- 2002/10/19 04:00 [entrez]
PHST- 2003/05/01 00:00 [pmc-release]
AID - S0002-9297(07)60406-6 [pii]
AID - 024194 [pii]
AID - 10.1086/344396 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2002 Nov;71(5):1138-49. doi: 10.1086/344396. Epub 2002 Oct 17.