ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : Issue : Year : 2024

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Novel Homozygous Nonsense Mutation in the <i>LRP5</i> Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2023; 15(3): 318-323 | DOI: 10.4274/jcrpe.galenos.2021.2021.0186

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

Abolfazl Heidari1, Ali Homaei2, Fatemeh Saffari3
1Reference Laboratory of Qazvin Medical University, Iran Sana Medical Genetics Laboratory, Qazvin, Iran
2Shahid Beheshti University of Medical Sciences, Department of General Surgery, Tehran, Iran
3Qazvin University of Medical Sciences, Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Department of Pediatric Endocrinology, Qazvin, Iran

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 clinical manifestations of OPPG. The younger female sibling had blindness and severe osteoporosis with multiple fractures, while her older brother was also blind but with less severe osteoporosis and no fractures. On analysis, a novel homozygous nonsense mutation (c.351G>A) in exon 2 of LRP5 (NM_002335) was found, predicted to change a tryptophan at 117 to a stop codon (p. Trp117Ter). Thus, a variable phenotype was associated with an identical variant in these two siblings. The novel mutation reported herein expands the spectrum of the underlying genetic pathology of OPPG.

Keywords: Osteoporosis-pseudoglioma syndrome, LRP5 gene, nonsense mutation

Abolfazl Heidari, Ali Homaei, Fatemeh Saffari. Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome. J Clin Res Pediatr Endocrinol. 2023; 15(3): 318-323

Corresponding Author: Fatemeh Saffari, Iran
Manuscript Language: English
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