Introduction: Food allergies (FA) have been increasing dramatically over the past 25 years and the peanut allergy has been noticed more likely for a half-decade as well. The prevalence of FA in children was found to be 10%, which is high compared with adults. Limited periodic reports are available of numerous food allergic reactions in children. Complete exome sequencing in this context had an opportunity to investigate Saudi children diagnosed with FA. However, the genetic mechanisms and their factors underlying FA are largely not recognized. Three non-familial cases were arbitrarily selected along with three matching control children. Results: A total of 26 mutations were documented from the six samples; 20 mutations were confirmed through FA cases and 6 from control children. There are four mutations, namely rs35364374, rs2293404, rs9657362 and rs757387978, which had not been associated with FA in any prior study with children. This mutation was appearing in both the cases and controls. However, chr5: 109973901-TMEM322 gene and chr19: 39008235-RYR1 gene appeared as novel mutations only in the control children. We could not find this mutation in any FA cases. Our study revealed four mutations which had not previously been connected with food allergy within the database and the rs35364374 and rs9657362 mutations were documented within the database with different diseases. Conclusion: However, in the control children a couple of novel mutations were identified which have not been reported anywhere else. This study recommends screening all the six mutations in food allergy cases and their relevant controls to confirm the prevalence in the Saudi population. Future studies are recommended to study the four variants in detail.

Background: Attention-deficit hyperactivity disorder (ADHD) is a widespread and debilitating disorder with relatively high prevalence in Saudi Arabia. Neuropsychological and radiological investigations have revealed that there are some differences in the components of the brain regions in children with and without ADHD. In this study we have performed whole exome sequencing (WES) in four non-familial cases of ADHD from Makkah Region to identify the genetic polymorphisms associated with the disease in our Saudi population. Methods: Exome sequencing was carried out using Ion Proton with AmpliSeq Exome library methods, and the data were analysed by Ion Reporter 5.6 software. Results: A total of 33 variants were identified from 222 genes selected from the GWAS catalogue for ADHD associated genes. However, the SNPs we identified in these genes were not reported to be associated with ADHD in previous studies. We have identified 2 novel missense variants; one in c.3451G > T; p. (Ala1151Ser) in ITGA1 gene and another is c.988G > A; p. (Ala330Thr) in SPATA13 genes. The variants rs928661, rs11150370 and rs386792899 were the only three variants that appeared on all the 4 patients studied. Six missense variants, rs16841277, rs2228209, rs2230283, rs3741883, rs1716 and rs2272606, were found in 3 different patients, respectively. However, the three documented variants are rs13166360 with bipolar disorder, rs920829 with neuropathic pain, and rs6558702 with schizophrenia. Conclusion: We have identified 2 novel variants in ADHD children. SIFT score of all variants indicates that these substitutions have damaging effects on the protein function. Further screening studies are recommended for confirmation.