Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report

Abstract

Abstract Background Autosomal recessive cataract (CTRCT18) is a rare type of congenital cataract that develops to complete and lifelong childhood blindness. This inherited disorder is one of the major visual health concerns in infants. Genetic studies discovered that various gene mutations resulted in congenital cataracts. This study reports an 8-month-old affected boy from a consanguineous family with a diagnosis of congenital cataract and a causative genetic abnormality. Case presentation In this study, we applied whole-exome sequencing (WES) followed by Sanger sequencing to identify probable gene defects in an affected patient with a congenital cataract. We found a homozygous disease-causing FYCO1 gene mutation (c.1387 G > T; p.G463X), located in exon 8 (NM_024513), causing a nonsense mutation that has been resulted in the stop codon. Parents are heterozygous for the detected mutation. Conclusions Our findings establish that this detected FYCO1 gene mutation is a pathogenic variant causing autosomal recessive cataract.

Keywords

• Autosomal recessive cataract
• FYCO1
• Whole-exome sequencing
• Case report