Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

BACKGROUND

Lowe syndrome is an extremely rare X-linked genetic condition caused by disruptions in phosphatidylinositol metabolism, primarily impacting the eyes, brain, and kidneys. The condition is driven by over 200 identified mutations in the OCRL1 gene, which codes for an inositol polyphosphate 5-phosphatas.

METHODS

This report details an Egyptian family seeking prenatal diagnosis after having a child with Lowe syndrome (LS). The affected child exhibited bilateral congenital cataracts, profound developmental delay, heart abnormalities, hypotonia, and proximal renal tubular dysfunction, and characteristic facial dysmorphism. Following DNA extraction, molecular investigation started by exome sequencing followed by Sanger sequencing which was used to identify the causative mutation in this family.

RESULTS

A hemizygous.” novel mutation (c.688C > T; p.R230*) was identified in OCRL1 gene in the affected child and fetus.

CONCLUSION

Our study is the first prenatal report from Middle East. The affected child’s clinical features were in accordance with LS syndrome but with minimal renal involvement. Cardiac defects, cerebral atrophy and atrophy of the corpus callosum were additional findings expanding the clinical phenotype described in the previously reported studies.