PIGF deficiency causes a phenotype overlapping with DOORS syndrome
نویسندگان
چکیده
DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G, p.Pro172Arg) both. We demonstrate impaired glycosylphosphatidylinositol (GPI) biosynthesis through flow cytometry analysis. thus describe the causal role of novel disease gene, PIGF, highlight overlap between condition GPI deficiency disorders. For each gene implicated and/or inherited deficiencies, there considerable clinical variability so high index suspicion warranted even though not all features are noted.
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2021
ISSN: ['0018-7348', '1432-1203', '0340-6717']
DOI: https://doi.org/10.1007/s00439-020-02251-2