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Published on: August 15, 2019
Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature
Abdulla A Alharthi1,2,3, Ehab I El-Hallous1,4, Iman M Talaat5
1Deanship of Scientific Research, Taif University, Taif, Saudi Arabia.
Insights
Genetic screening of the short stature homeobox-containing gene (SHOX) in Saudi Arabian children with idiopathic short stature (ISS) revealed limited mutations. This suggests other genetic factors may be involved in ISS etiology in this population.
Area of Science:
- Pediatric Endocrinology
- Human Genetics
- Molecular Biology
Background:
- Short stature affects 2%-3% of children, often prompting clinical evaluation.
- Mutations in the short stature homeobox-containing gene (SHOX) are frequently implicated in short stature.
- Idiopathic short stature (ISS) encompasses cases where the cause of short stature is unknown.
Purpose of the Study:
- To screen all exons of the SHOX gene for mutations in children diagnosed with idiopathic short stature.
- To investigate the role of SHOX gene variations in Saudi Arabian children with short stature.
Main Methods:
- Direct DNA sequencing was employed to analyze SHOX gene exons in 105 ISS children from Taif, KSA.
- Anthropometric measurements including height, arm span, and sitting height were recorded.
Main Results:
- Six polymorphic variants were identified in 30% of the ISS patients across SHOX exons 1, 2, 4, and 6.
- A single mutation was detected within the DNA binding domain of exon 4.
- No significant anthropometric differences were observed between ISS patients with and without SHOX variants.
Conclusions:
- The study suggests that SHOX gene mutations are not a primary cause of ISS in the studied Saudi Arabian cohort.
- Alternative genetic factors likely contribute to the etiology of idiopathic short stature in this population.
- Further molecular analyses are recommended to elucidate the genetic basis of ISS.
Purpose:
Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations.
Methods:
We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated.
Results:
A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX.
Conclusion:
In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.
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