TY - JOUR
T1 - Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome
AU - Swiatecka-Urban, Agnieszka
AU - Mokrzycki, Michele H.
AU - Kaskel, Frederick
AU - Da Silva, Francis
AU - Denamur, E.
PY - 2001/8/20
Y1 - 2001/8/20
N2 - We report the identification of a novel Wilms tumor suppressor gene mutation in a 5-month-old girl who presented with unilateral Wilms tumor (WT) and renal diffuse mesangial sclerosis typical of Denys-Drash syndrome (DDS). The patient did not have ambiguous genitalia and the karyotype (by amniocentesis) was 46, XX. A de novo constitutional heterozygous mutation in WT1 gene exon 9 coding for the third zinc-finger (1163G→A, C388Y) was identified. This mutation affects a cysteine residue involved in the coordination of the zinc atom, confirming the importance of these residues in the biological function of WT1 protein.
AB - We report the identification of a novel Wilms tumor suppressor gene mutation in a 5-month-old girl who presented with unilateral Wilms tumor (WT) and renal diffuse mesangial sclerosis typical of Denys-Drash syndrome (DDS). The patient did not have ambiguous genitalia and the karyotype (by amniocentesis) was 46, XX. A de novo constitutional heterozygous mutation in WT1 gene exon 9 coding for the third zinc-finger (1163G→A, C388Y) was identified. This mutation affects a cysteine residue involved in the coordination of the zinc atom, confirming the importance of these residues in the biological function of WT1 protein.
KW - Denys-Drash syndrome
KW - Wilms tumor suppressor gene
KW - Zinc-finger domain
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U2 - 10.1007/s004670100626
DO - 10.1007/s004670100626
M3 - Article
C2 - 11519891
AN - SCOPUS:0034904187
SN - 0931-041X
VL - 16
SP - 627
EP - 630
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 8
ER -