CNV and LOH analysis of patient sample PN11-0204

ABSTRACT: We saw a patient who presented with respiratory distress from birth due to interstitial lung disease. Before the age of three months a diagnosis of nephrotic syndrome was made. Lung biopsy revealed pulmonary interstitial glycogenosis. Despite extensive investigations, no known genetic or infectious cause was found for the congenital nephrotic syndrome. The patient died at the age of 8 months due to respiratory failure. A 20 Mb homozygous region was identified on chromosome 17 in the patientM-bM-^@M-^Ys DNA, revealing a novel homozygous missense variant in ITGA3 gene. Genomic DNA was obtained from peripheral blood samples of the patient with interstitial lung fibrosis and nephrotic syndrome. Copy number variation (CNV) screening by means of microarray analyses was carried out on the Affymet

ORGANISM(S): Homo sapiens

SUBMITTER: Rolph Pfundt 

PROVIDER: E-GEOD-40405 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress