ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : Issue : Year : 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosispseudoglioma Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-83703 | DOI: 10.4274/jcrpe.galenos.2021.2021.0186

Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosispseudoglioma Syndrome

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

Osteoporosis-Pseudoglioma Syndrome is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, we report clinical findings and genetic study of two siblings with OPPG. Whole exome sequencing on DNA enriched for exonic regions was performed with SureSelect 38Mbp all exon kit v. 7.0. The two siblings showed different clinical manifestations with OPPG; as the female patient had blindness and severe osteoporosis with multiple fractures, while her older brother was blind with- less severe osteoporosis and no bone fractures. In these patients, a novel homozygous nonsense mutation (c.351G>A) in exon 2 of LRP5 gene (NM_002335) was found, changing Tryptophan 117 to stop codon (p. Trp117Ter). A variety of clinical manifestations of OPPG can be observed in a family despite the same gene mutation. The novel mutation reported in this study expands the spectrum of the underlying OPPG genetic
pathology.

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



Corresponding Author: Fatemeh Saffari, Iran
Manuscript Language: English
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