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Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
Sandokji, Ibrahim; Marquez, Jonathan; Ji, Weizhen; Zerillo, Cynthia A; Konstantino, Monica; Lakhani, Saquib A; Khokha, Mustafa K; Warejko, Jillian K.
Afiliación
  • Sandokji I; Department of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA.
  • Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Zerillo CA; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Konstantino M; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Warejko JK; Department of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA. jillian.warejko@yale.edu.
BMC Nephrol ; 20(1): 271, 2019 07 17.
Article en En | MEDLINE | ID: mdl-31315584
ABSTRACT

BACKGROUND:

Monogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome. CASE PRESENTATION Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation.

CONCLUSIONS:

NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de Complejo Poro Nuclear / Mutación / Síndrome Nefrótico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de Complejo Poro Nuclear / Mutación / Síndrome Nefrótico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos