Anophthalmia AO and microphthalmia MO have both heritable and environmental causes. The proband described in this study was a 32-year-old symptomatic The detected homozygous canonical splice site variant in the TENM3 gene has not been reported up to now for its pathogenicity and can be considered as a novel mutation.

This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with similar disease manifestations.

Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport. The responsible gene, Cystinosin, Lysosomal Cystine Transporter (CTNS), encodes the lysosomal cystine carrier cystinosin. Case presentation In this case report, we reviewed the genetic basis of cystinosis and investigated two Iranian cases affected by cystinosis, one of which revealed a rare mutation in the CTNS gene. Two patients, 9-year-old (patient A) and 11-year-old (patient B) symptomatic Iranian females with renal insufficiency, were diagnosed with cystinosis on the basis of their clinical features and laboratory tests. After genetic counseling, blood samples were obtained from the patients and their parents. Genomic Deoxyribonucleic Acid (DNA) was extracted from whole blood, and mutation analysis was performed using polymerase chain reaction and sequencing methods for all exons of the CTNS gene. At least 148 different pathogenic and deleterious mutations in the CTNS gene have been reported to date. Owing to our patient’s prominent clinical features of cystinosis, we carried out a targeted search for mutations in the CTNS gene. Conclusions This led us to confirm the existence of a homozygous DNA variation c.257_258deletionCT (p.Ser86PhefsTer38) in exon 6 of the gene in patient A and another homozygous DNA variation, c.323delA (p.Q108RfsTer10), in the same exon in patient B. As expected, the mentioned mutation existed in both her parents in a heterozygous state. Variations c.257_258delCT and c.323delA reported in three Iranian patients in the CTNS gene are frameshifts, and truncating mutations that affect product function result in relatively mild symptoms of cystinosis. The present finding confirms previous research and proves the importance of the association of this gene rare mutations with cystinosis. Since reported mutations are rare, their previous reports in Iranian patients indicate the high frequency of these mutations in our region.

Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating mutations that affect product function and result in the signs and symptoms of cystinosis.

Alzheimer's disease (AD) is a common progressive and irreversible neurodegenerative disorder. Neuronal loss in the brain is one of the important characteristic features of AD, which is along with memory and cognitive dysfunction. Activation of programmed cell deaths, especially apoptosis and necroptosis, and autophagy failure plays a critical role in the pathogenesis of AD. Ghrelin, an appetite-related hormone, exerts neuroprotective effects via the stimulation of growth hormone secretagogue receptor type 1a in the central nervous system. In this study, rats' cognitive impairment was induced by intra-hippocampal Cornu Ammonis 3 administration of amyloid-beta 1–42 (Aβ 1–42). Then animals were treated with ghrelin 80 µg/kg intraperitoneally for 10 consecutive days. The Morris water maze and passive avoidance learning test were used to evaluate of effect of ghrelin on learning and memory performance. After that, histopathological study on rat hippocampus was done, and the expression of pro-apoptotic protein Bax, anti-apoptotic protein Bcl-2, necroptotic proteins RIP1K and RIP3K and autophagic marker Beclin-1 were assessed using western blotting method. Our findings showed that ghrelin improves memory impairment in Aβ 1–42-induced rats and reduces Bax, RIP1K, and RIP3K expressions and also Bax/Bcl-2 ratio, as well as Beclin-1 expressions. In conclusion, our study suggests that ghrelin can provide neuroprotection via apoptosis and necroptosis inhibition and autophagy promotion and also crosstalk regulation between three cell death pathways in Aβ 1–42-induced model of Alzheimer's disease.