Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

doi:10.1038/ki.2011.148

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Article

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

Kidney international - 1 Aug 2011

Sanna-Cherchi Simone, Burgess Katelyn E, Nees Shannon N, Caridi Gianluca, Weng Patricia L, Dagnino Monica, Bodria Monica, Carrea Alba, Allegretta Maddalena A, Kim Hyunjae R, Perry Brittany J, Gigante Maddalena, Clark Lorraine N, Kisselev Sergey, Cusi Daniele, Gesualdo Loreto, Allegri Landino, Scolari Francesco, D'Agati Vivette, Shapiro Lawrence S, Pecoraro Carmine, Palomero Teresa, Ghiggeri Gian M, Gharavi Ali G

Abstract excerpt

To identify gene loci associated with steroid-resistant nephrotic syndrome (SRNS), we utilized homozygosity mapping and exome sequencing in a consanguineous pedigree with three affected siblings. High-density genotyping identified three segments of homozygosity spanning 33.6 Mb on chromosomes 5, 10, and 15 containing 296 candidate genes. Exome sequencing identified two homozygous missense variants within the...

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PMID: 21697813
DOI: 10.1038/ki.2011.148

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NEIL1

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