2021年6月1日
PIGF deficiency causes a phenotype overlapping with DOORS syndrome
Human Genetics
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- 巻
- 140
- 号
- 6
- 開始ページ
- 879
- 終了ページ
- 884
- 記述言語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1007/s00439-020-02251-2
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.
- リンク情報
- ID情報
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- DOI : 10.1007/s00439-020-02251-2
- ISSN : 0340-6717
- eISSN : 1432-1203
- PubMed ID : 33386993
- SCOPUS ID : 85098478965