A Rare Variant in<i> PGAP2</i> Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

<div>Pedigree of studied kindred, EEG recordings, homozygosity mapping, and the<i> PGAP2</i> variant: (a) pedigree of consanguineous Bedouin kindred studied. Below each individual are the alleles of the<i> PGAP2</i> mutation, whereas G (in black) represents the wild-type allele while A (in red) represents the mutant allele. (b) EEG recordings of patient IV-5 during wakefulness showing generalized interictal spike and slow epileptiform discharges more prominent anteriorly. (c) Homozygosity-Mapper plot; blue arrows present homozygous loci shared by three affected individuals. (d) Integrative Genomic Viewer (IGV) showing the<i> PGAP2</i> variant.</div>

BioMed Research International

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Figure 1

Figure 1: A Rare Variant in<i> PGAP2</i> Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers 

Figure 1 | A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers 