Background: Osteoporosis pseudoglioma syndrome (OPPG) characterized by congenital or early onset blindness with severe juvenile onset osteoporosis. OPPG is a rare autosomal recessive disorder due to loss of function mutation in the low-density lipoprotein receptor like protein 5 (LRP5).
Methods: Two patients (siblings) underwent clinical examination, including a complete ophthalmic evaluation. Diagnosis of OPPG was based on clinical examination and bone mineral density (BMD). The entire coding sequence of LRP5 was examined using target region capture followed by next generation sequencing.
Results: molecular analysis identified a novel homozygous c.351G>A, p.Trp117Ter) variant on chr11:68115574 (hg19) EX2/CDS2 in both sibs. Their parents were heterozygous carriers.
Conclusions: One novel homozygous variant was demonstrated in two OPPG cases from Iran. This result expands the spectrum of disease-causing LRP5 mutations. Although this mutation has not been reported, its frequencies in normal population are very low.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology