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Article

Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome

Journal of clinical research in pediatric endocrinology - 23 Aug 2023

Heidari Abolfazl, Homaei Ali, Saffari Fatemeh

Abstract excerpt

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for exonic regions was performed with SureSelect 38Mbp all exon kit v. 7.0. The two siblings presented with different...

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Identifiers

PMID: 34965700
DOI: 10.4274/jcrpe.galenos.2021.2021.0186
PMCID: PMC10448547

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