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.

Hereditary hearing loss is the most common sensory neural disorder, which has been revealed to have high genetic heterogeneity. Herein, we aimed to figure out the underlying genetics of the subject from an Iranian deaf family. Next-generation sequencing (NGS) of all known hearing loss genes was carried out in the proband of the family, followed by a cosegregation analysis of all members of the family. We recognized a novel homozygous pathogenic nonsense mutation, NM_001145472: c.1787G>A; p.W596X, in the LOXHD1 gene, and Sanger sequencing verified that this mutation segregated with the ARNSHL in the family. Our study showed a contribution of LOXHD1 variants to the NSHL in Iranian patients and provided a better understanding of the mutation spectrum of deafness in the Iranian population. Also, the present investigation supports the application of genetic testing in the clinical diagnosis and genetic counseling of deafness.

Background Charcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C and distal spinal muscular atrophy IV. The purpose of this case study is to report a causative genetic defect associated with intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C in an Iraqi consanguineous family. Case presentation Whole-exome and Sanger sequencing was used to identify probable gene defects in a 9-year-old male affected by CMTRIC. We found a new single mutation (c.1844C > A; p.T615N) in the PLEKHG5 gene, located in exon 17 (NM_020631.6), causing a missense mutation that has been changed one amino acid. The mutation was homozygous in the patient and heterozygous in his parents. Conclusion Our results expand the PLEKHG5 pathogenic mutation spectrum related to intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C which is vital for screening and genetic diagnosis of the disease.