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| Status |
Public on Jan 26, 2011 |
| Title |
ENPP1 deletion and infantile arterial calcification |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
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| Summary |
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).
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| 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.
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| Contributor(s) |
Watkins S |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Jan 25, 2011 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Scott Watkins |
| E-mail(s) |
scott.watkins@genetics.utah.edu
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| Phone |
801-585-3385
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| Fax |
801-585-9148
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| Organization name |
University of Utah
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| Department |
Human Genetics
|
| Street address |
15 N 2030 E Rm2100
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| City |
Salt Lake City |
| State/province |
UT |
| ZIP/Postal code |
84112 |
| Country |
USA |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (1) |
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| Relations |
| BioProject |
PRJNA135987 |
