Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing

doi:10.3906/sag-1711-74

Cited by 6 publications

(2 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The regulation of the growth plate by the SHOX gene exhibits a gene-dosage effect, and patients with SHOX defects show significant phenotypic heterogeneity. [ 8 – 10 ] Pathogenic mutations in the gene can cause Léri-Weill dyschondrosteosis as a pseudoautosomal dominant disorder and Langer mesomelic dysplasia as a pseudoautosomal recessive disorder. They can also cause ISS with an unknown genetic pattern.…”

Section: Discussionmentioning

confidence: 99%

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

Liu,

Li,

et al. 2023

Medicine

View full text Add to dashboard Cite

Background: The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of short stature in children, with an incidence rate of 1/1000~1/2000 and the main clinical manifestations are short stature and (or) limb skeletal abnormalities. SHOX gene mutations are mostly large deletions of regulatory sequence genes, while exon mutations are relatively rare. The pathogenic rate of mutations occurring in exon 5 is only 1/50 000~1/100 000. This study reviewed the clinical data of a child with SHOX gene mutation in exon 5, and analyzed the clinical phenotype, pathogenesis, diagnosis, treatment and prognosis of SHOX gene mutation in combination with relevant literature at home and abroad. Case presentation: The patient was an 8-year-old girl with a height of 105.2 cm (−4.31 standard deviations). Her sitting height/height ratio was 56.8% (>55.5%), and she exhibited high-arched palate, irregular dentition, micrognathia, short fingers, and a normal growth hormone stimulation test. Whole-exome sequencing was performed, and Sanger sequencing was used for site validation. The sequencing results revealed a heterozygous mutation of c.577G > A in exon 5 of the SHOX gene, inherited from the father. The clinical symptoms of the proband were consistent with the phenotype of short stature idiopathic familial associated with SHOX gene mutations. The father, grandfather, uncle, and sister of the proband all had the c.577G > A heterozygous mutation. Therefore, the clinical diagnosis was childhood short stature caused by SHOX gene defects. The SHOX: c.577G > A mutation is likely to be the genetic etiology of familial idiopathic short stature in this family, and this novel mutation enriches the mutation spectrum of the SHOX gene. Conclusion: This is the first case report of familial idiopathic dwarfism caused by mutation at the c.577G > A locus of exon 5 of SHOX gene in the world. This novel mutation enriches the mutation spectrum of the SHOX gene. It is important to emphasize genetic testing, including the SHOX gene, in patients with familial idiopathic short stature and to provide timely growth hormone therapy to individuals with short stature caused by SHOX gene mutations in order to improve their adult height.

show abstract

Section: Discussionmentioning

confidence: 99%

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

Liu,

Li,

et al. 2023

Medicine

View full text Add to dashboard Cite

show abstract

“…In a West Asian population, Delil et al ( 20 ) identified one patient (2.6%) with SHOX variation. In contrast, Bakır et al ( 21 ) found no variation in the SHOX gene in 37 patients. Alharthi et al ( 22 ) found only one variation in exon 4 of SHOX while rest of patients had polymorphisms in exons 1, 2, 4, and 6.…”

Section: Discussionmentioning

confidence: 90%

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

Srivastava,

Tyagi,

Bamba

et al. 2023

Jcrpe

View full text Add to dashboard Cite

Objective: Short stature homeobox ( SHOX ) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of SHOX variations in ISS varies from 2.5% to 15.0%. The aim of this study was to assess the implication of SHOX variation in ISS in North Indians and compare this with other cases of SHOX variations from Asian population. Methods: SHOX gene analysis was carried out by multiplex ligation-dependent probe amplification followed by Sanger sequencing in 54 patients with variable phenotypes. Comparison with other reports in a meta-analysis comprising the current study and 11 previous studies (n=979) was performed. Results: SHOX analysis resulted in 12.9% positivity (7.4% deletions and 5.5% duplications). SHOX association was seen significantly related to gender, with predominance in females (p=0.047). Short arms and forearms were the only significantly associated trait seen in 51.9% of children. The overall prevalence of SHOX variation was 15.2% in Asians with ISS. No significant difference was found in geographical region-specific analysis. Conclusion: This study summarises findings from the last decade and provides an updated picture of the prevalence of SHOX variations in Asians, emphasizing their potential as therapeutic targets in ISS patients. Further high quality, large investigations including functional validation is warranted to validate this association.

show abstract

WITHDRAWN: SHOX variations in Idiopathic Short Stature in North India and its overall prevalence in Asia

Srivast

2022

Preprint

View full text Add to dashboard Cite

Background Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). The worldwide prevalence of SHOX variations in ISS varies from 2.5–15%. This study aims to assess the implication of SHOX variation in ISS in North India and its overall prevalence in Asian population. Methods SHOX gene analysis carried out by Multiplex ligation dependent probe amplification (MLPA) followed by Sanger sequencing in 54 patients with variable phenotypes. Meta-analysis was done to evaluate its prevalence which comprises 11 previous studies including present, carried out on a total of 979 participants. Results SHOX gene analysis resulted in 12.9% of positivity (7.4% deletions and 5.5% duplications). SHOX association was seen significantly related to gender, with predominance in female sex (P-value: 0.047). Short arms and forearms were the only significantly associated trait seen in 51.85% of children. We have found a rare association of multiple exostosis with LWD in a child with deletion. The prevalence of SHOX variation came as 15.2% in Asians. No significant difference was found in geographical region-specific analysis. Conclusion This meta-analysis compiles findings from the last decade and provides an updated picture of the prevalence of SHOX variations in Asians, emphasizing their potential as therapeutic targets in ISS patients.

show abstract

Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing

Cited by 6 publications

References 19 publications

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

WITHDRAWN: SHOX variations in Idiopathic Short Stature in North India and its overall prevalence in Asia

Contact Info

Product

Resources

About