Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.

ABSTRACT:

Background

Accurate diagnosis of the primary cause of an individual's kidney disease can be essential for proper management. Some kidney diseases have overlapping histopathologic features despite being caused by defects in different genes. In this report, we describe 2 consanguineous Saudi Arabian families in which individuals presented with kidney failure and mixed clinical and histologic features initially believed to be consistent with focal segmental glomerulosclerosis.

Study design

Case series.

Setting & participants

We studied members of 2 apparently unrelated families from Saudi Arabia with kidney disease.

Measurements

Whole-genome single-nucleotide polymorphism analysis followed by targeted isolation and sequencing of exons using genomic DNA samples fro

SUBMITTER: Al-Romaih KI 

PROVIDER: S-EPMC3291334 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature