Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
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Open Access
- 29 August 2010
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 42 (10), 827-829
- https://doi.org/10.1038/ng.653
Abstract
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.This publication has 15 references indexed in Scilit:
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