This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities.

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.

In recent years, the aquaculture industry has extended significantly and has moved towards intensive and super-intensive systems due to the growth in the world population and the demand to provide food from diverse sources. As a result, the importance of the need for water quality control, nutrition and disease prevention is increasingly felt in the aquaculture industry (Chelemal Dezfoulnejad & Molayemraftar, 2021;FAO, 2021). In the past decades, many researchers have studied various aspects of the administration of

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.