Salian, S;
Benkerroum, H;
Nguyen, TTM;
Nampoothiri, S;
Kinoshita, T;
Felix, TM;
Stewart, F;
... Campeau, PM; + view all
(2021)
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Human Genetics
, 140
pp. 879-884.
10.1007/s00439-020-02251-2.
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Text (Table 1)
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Abstract
DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with DOORS syndrome without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G, p.Pro172Arg) in both. We demonstrate impaired glycosylphosphatidylinositol (GPI) biosynthesis through flow cytometry analysis. We thus describe the causal role of a novel disease gene, PIGF, in DOORS syndrome and highlight the overlap between this condition and GPI deficiency disorders. For each gene implicated in DOORS syndrome and/or inherited GPI deficiencies, there is considerable clinical variability so a high index of suspicion is warranted even though not all features are noted.
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