Denys-drash syndrome with neonatal renal failure in monozygotic twins due to C.1097G>A mutation in the wT1 gene

Larissa V. Furtado; Theodore Pysher; John Opitz; Randy Lamb; Jessica Comstock; Sat BatiS.H.; Teri Mauch; Raoul Nelson; Holly Zhou

doi:10.3109/15513815.2011.555814

Denys-drash syndrome with neonatal renal failure in monozygotic twins due to C.1097G>A mutation in the wT1 gene

Larissa V. Furtado, Theodore Pysher, John Opitz, Randy Lamb, Jessica Comstock, Sat BatiS.H., Teri Mauch, Raoul Nelson, Holly Zhou

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.1097G > A), resulting in an arginine-to-histidine (R366H) substitution in the second zinc finger domain. To the best of our knowledge, this is only the second set of monozygotic twins with Denys-Drash syndrome reported to date.

Original language	English (US)
Pages (from-to)	266-272
Number of pages	7
Journal	Fetal and Pediatric Pathology
Volume	30
Issue number	4
DOIs	https://doi.org/10.3109/15513815.2011.555814
State	Published - Jul 14 2011
Externally published	Yes

Keywords

Congenital nephrotic syndrome
Denys-Drash syndrome
Diffuse mesangial sclerosis
Gonadal dysgenesis
Twins
WT1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine

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10.3109/15513815.2011.555814

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title = "Denys-drash syndrome with neonatal renal failure in monozygotic twins due to C.1097G>A mutation in the wT1 gene",

abstract = "Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.1097G > A), resulting in an arginine-to-histidine (R366H) substitution in the second zinc finger domain. To the best of our knowledge, this is only the second set of monozygotic twins with Denys-Drash syndrome reported to date.",

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author = "Furtado, {Larissa V.} and Theodore Pysher and John Opitz and Randy Lamb and Jessica Comstock and Sat BatiS.H. and Teri Mauch and Raoul Nelson and Holly Zhou",

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AU - Furtado, Larissa V.

AU - Pysher, Theodore

AU - Opitz, John

AU - Lamb, Randy

AU - Comstock, Jessica

AU - BatiS.H., Sat

AU - Mauch, Teri

AU - Nelson, Raoul

AU - Zhou, Holly

PY - 2011/7/14

Y1 - 2011/7/14

N2 - Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.1097G > A), resulting in an arginine-to-histidine (R366H) substitution in the second zinc finger domain. To the best of our knowledge, this is only the second set of monozygotic twins with Denys-Drash syndrome reported to date.

AB - Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.1097G > A), resulting in an arginine-to-histidine (R366H) substitution in the second zinc finger domain. To the best of our knowledge, this is only the second set of monozygotic twins with Denys-Drash syndrome reported to date.

KW - Congenital nephrotic syndrome

KW - Denys-Drash syndrome

KW - Diffuse mesangial sclerosis

KW - Gonadal dysgenesis

KW - Twins

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Denys-drash syndrome with neonatal renal failure in monozygotic twins due to C.1097G>A mutation in the wT1 gene

Abstract

Keywords

ASJC Scopus subject areas

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