A new case of osteogenesis imperfecta type VIII and retinal detachment.
Am J Med Genet A
; 185(1): 238-241, 2021 01.
Article
em En
| MEDLINE
| ID: mdl-33098264
ABSTRACT
Osteogenesis imperfecta (OI) type VIII (OMIM 610915) is a rare autosomal recessive disorder characterized by white sclerae, severe growth deficiency, and bone fragility. This condition results from pathogenic variants of P3H1, a gene that codes for P3H1, an important protein involved in the prolyl-3-hydroxylation complex required for collagen type I folding. Here, we described a woman with OI type VIII due to a homozygous mutation of c.1914+1G>C (NM_001243246.1) in P3H1 and retinal detachment. We compared our case to five severe OI and retinal detachment cases reported in the literature. The only case previously reported with a molecular diagnosis had a similar mutation in P3H1 c.1914+1G>A and a giant retinal detachment. We suggest that individuals with OI type VIII should be submitted to careful fundoscopic examination.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
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Proteoglicanas
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Descolamento Retiniano
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Glicoproteínas de Membrana
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Predisposição Genética para Doença
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Prolil Hidroxilases
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article