Journal
NATURE GENETICS
Volume 42, Issue 10, Pages 827-829Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.653
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Funding
- Deutsche Forschungsgemeinschaft [SFB 665]
- Bundesministerium fur Bildung und Forschung (BMBF) [0313911]
- Australian National Health and Medical Research Council
- Canadian Institutes of Health Research
- Epilepsy Canada
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Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in HPMR. We identified homozygous or compound heterozygous mutations in PIGV in three additional families.
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