PMID- 10571943
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20101118
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 6
DP  - 1999
TI  - Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are
      also responsible for Frasier syndrome.
PG  - 466-70
AB  - We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of
      +/- KTS splice isoforms in two unrelated patients with Frasier syndrome (FS). The
      mutation of intron 9 inducing defective alternative splicing was reported to be
      responsible for this syndrome. The mutations found in our cases occurred in the
      same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not
      be explained by the previously proposed mechanism. The results suggest that the
      two syndromes originate from the same WT1 gene abnormality. From a molecular
      biological point of view, we concluded that the two diseases were not separable, 
      and that FS should be included as an atypical form of DDS.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Kohsaka, T
AU  - Kohsaka T
AD  - Department of Immunology, National Children's Medical Research Center, Tokyo,
      Japan. tkohsaka@nch.go.jp
FAU - Tagawa, M
AU  - Tagawa M
FAU - Takekoshi, Y
AU  - Takekoshi Y
FAU - Yanagisawa, H
AU  - Yanagisawa H
FAU - Tadokoro, K
AU  - Tadokoro K
FAU - Yamada, M
AU  - Yamada M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Protein Isoforms)
RN  - 0 (Transcription Factors)
RN  - 0 (WT1 Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA/genetics
MH  - DNA Primers/genetics
MH  - DNA-Binding Proteins/genetics
MH  - Disorders of Sex Development/*genetics
MH  - Exons
MH  - *Genes, Wilms Tumor
MH  - Humans
MH  - Kidney Diseases/*genetics
MH  - Male
MH  - Phenotype
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Protein Isoforms/genetics
MH  - RNA Splicing/genetics
MH  - Syndrome
MH  - Transcription Factors/genetics
MH  - WT1 Proteins
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6 [pii]
AID - 10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(6):466-70. doi:
      10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6.