PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Hum Genet
; 140(6): 879-884, 2021 Jun.
Article
em En
| MEDLINE
| ID: mdl-33386993
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_173074.3c.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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Convulsões
/
Deformidades Congênitas da Mão
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Glicosilfosfatidilinositóis
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Anormalidades Craniofaciais
/
Mutação de Sentido Incorreto
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Perda Auditiva Neurossensorial
/
Proteínas de Membrana
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Deficiência Intelectual
/
Unhas Malformadas
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
/
Animals
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Canadá