Individual #00025463

ID_report -
Reference PubMed: Howard 2014
Remarks Index case.
Gender F
Consanguinity no
Country United States
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS4
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10)) (HPMRS4;GPIBD10)   Add phenotype for this disease

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Owner     
0000021576 She presented global development delay, elevated serum ALP levels, and tonic-clonic and cluster seizures. Facial features included apparent hypertelorism, broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion . - - Familial, autosomal recessive 10y - - - - Philippe Campeau



Screenings


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Owner     
0000025465 DNA SEQ-NG - - PGAP3 2 Philippe Campeau



Variants

2 entries on 1 page. Showing entries 1 - 2.
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17 Maternal (confirmed) +/. - pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 CHO cell line defective in both PGAP3 have GPI-APs at mildly reduced levels because of a lack of GPI fatty acid remodelling. When wild-type PGAP3 cDNA was transfected, the first step in the fatty acid remodelling was restored, whereas the second step remained defective, leading to the release of lyso-GPI intermediates and resulting in a severe reduction in the surface levels of GPI-APs. Mutant PGAP3 cDNA bearing the mutation p.Asp305Gly significantly reduced levels of all three GPI-APs, indicating some residual activity. The p.Asp305Gly protein was readily detectable but had immature N-glycan and was mislocalized in the ER by immunoblot. PubMed: Howard et al. 2014 - rs587777252 Germline yes - - 0 - Philippe Campeau PGAP3 - - - - - 8 NM_033419.3:c.914A>G - r.(?) p.(Asp305Gly) - - - - - - - - - - - - - - - - - - -
17 Paternal (confirmed) +/. - pathogenic g.37830928dup g.39674675dup - - PGAP3_000003 In vitro functional expression studies in CHO cells showed that the mutant c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins. PubMed: Howard et al. 2014 - - Germline yes - - 0 - Philippe Campeau PGAP3 - - - - - - NM_033419.3:c.439dup - r.(?) p.(Leu147Profs*16) - - - - - - - - - - - - - - - - - - -
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