Project name: Homo sapiens

Description: The goal of this study was to identify new mutations in the ENPP1 gene that produce infantile arterial calcification and fetal demise. A stillborn (proband) was diagnosed with infantile arterial calcification. Mutations in the ENPP1 gene account for ~80% of the cases of infantile arterial calcification through loss of function in both alleles (recessive inheritance).Overall design: The proband and parents were screened for mutations by sequencing. The male parent was analyzed by microarray to verify and map a deletion suspected by sequence data analysis. The sample was called with a Europeans reference. ENPP1 position is located at chr6:132,170,849-132,257,988 (hg18).The matrix data provided contains only the deleted region and flanking probes.

Data type: Variation

Sample scope: Monoisolate

Relevance: Medical

Last updated: 2011-01-25