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[Mutation and expression of WNT8b gene and SHH gene in Hirschsprung disease]
Hong Gao1, Zhi-bo Zhang, Zhong-jia Jiang
1Key Laboratory of Congenital Malformation Reseach, The Ministry of Health, Shengjing Affiliated Hospital, China Medical University, Shenyang 110004, China. gaohong515@sina.com
Insights
Mutations in the WNT8b and SHH genes were found in Chinese children with Hirschsprung disease (HSCR). These gene mutations and abnormal expressions in peripheral blood may contribute to HSCR development.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Medicine
Context:
- Hirschsprung disease (HSCR) is a congenital disorder affecting the large intestine.
- Genetic factors are implicated in the etiology of sporadic HSCR.
- Understanding the genetic basis of HSCR is crucial for diagnosis and potential therapeutic strategies.
Purpose:
- To investigate the association between mutations in the WNT8b and SHH genes and Hirschsprung disease (HSCR) in a cohort of Chinese children.
- To analyze the expression levels of WNT8b and SHH mRNA in patients with sporadic HSCR.
Summary:
- This study analyzed WNT8b and SHH gene mutations in 72 Chinese children with sporadic HSCR and 72 healthy controls.
- Mutations were identified in 13 children for WNT8b and 11 for SHH, with no mutations found in controls.
- Abnormal WNT8b and SHH mRNA expression levels were observed in HSCR patients compared to controls.
Impact:
- Identifies WNT8b and SHH gene mutations and altered mRNA expression in the peripheral blood of children with sporadic HSCR.
- Suggests a potential role for WNT8b and SHH in the pathogenesis of HSCR in northeastern China.
- Provides insights into the genetic underpinnings of HSCR, potentially aiding future diagnostic and research efforts.
Objective:
To investigate the relationship of WNT8b and SHH genes mutation and Hirschsprung disease(HSCR) in Chinese children.
Methods:
Preoperative whole blood preparations in 72 children with sporadic HSCR from northeast China were collected(study group). Seventy-two healthy children were used as controls(matched for sex and age). Genomic DNA was obtained from peripheral blood. Exon 1 of WNT8b gene and the exon 1 of SHH gene were analyzed for gene mutation. The mutation products were automatically sequenced. The levels of WNT8b and SHH mRNA were detected by quantitative real-time PCR(qRT-PCR) in blood samples.
Results:
On sequencing, 13 out of 72 children with HSCR had WNT8b gene mutation in the coding area, including heterozygosity deletion in 8 cases (11.1%) and base replacement in 5(6.9%). Eleven children with HSCR had SHH gene mutation in the coding area including heterozygosity deletion in 7 cases(9.7%) and base replacement in 4(5.6%). No mutations in WNT8b and SHH genes were found in the control group. The WNT8b and SHH mRNA levels were different between the study group and the control group(30.01±1.13 vs. 17.33±0.62, and 28.25±1.27 vs. 18.94±0.31, P<0.05).
Conclusions:
WNT8b and SHH mutations and abnormal expressions are present in the peripheral blood of children with sporadic HSCR. These two genes may be related to the development of sporadic HSCR in children in the northeastern China.
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