<p>Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases</p>

Abstract

Purpose Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis. Patients and Methods Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation. Results We had a 100% success rate identifying each case presented in this study. Conclusion This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.

Hirschsprung Disease in Jordan: A Review and Status Update

“…In 2020, Altamimi and collaborators from Jordan University of Science and Technology and the University of Jordan, as well as a number of research institutes in the USA, published an article studying the effect of genetic testing on diagnosing gastrointestinal pediatric patients with previously undiagnosed diseases [24]. They showed the importance of whole exome sequencing (WES) and its diagnostic potential in the pediatric clinic, especially in cases of undetermined diagnosis.…”

“…Sadly, the patient's condition worsened and the child passed away aged 1.5 years. The overall results of this research are a 100% diagnostic rate for the four families and finding causative variants for each case, creating the potential to implement WES in the diagnosis of pediatric diseases to achieve optimal management of the disorder as early as possible [24].…”

Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing

“…A Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome was analyzed using WES for causative genetic factors; the study revealed the SOX18 mutation associated with the syndrome [ 139 ]. WES analysis of four consanguineous Jordanian families detected the causative genetic variant responsible for an unknown gastrointestinal related diseases [ 140 ]. Across the five consanguineous families, four variations in the RP1 and RLBP1 genes were identified as disease-causing variants in patients with retinitis pigmentosa [ 141 ].…”