Estimation of hereditary fructose intolerance prevalence in the Chinese population
Abstract Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies. Materials and met...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-08-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02487-3 |
| _version_ | 1811285849799655424 |
|---|---|
| author | Meiling Tang Xiang Chen Qi Ni Yulan Lu Bingbing Wu Huijun Wang Zhaoqing Yin Wenhao Zhou Xinran Dong |
| author_facet | Meiling Tang Xiang Chen Qi Ni Yulan Lu Bingbing Wu Huijun Wang Zhaoqing Yin Wenhao Zhou Xinran Dong |
| author_sort | Meiling Tang |
| collection | DOAJ |
| description | Abstract Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies. Materials and methods By searching a local cohort (Chinese Children’s Rare Disease Genetic Testing Clinical Collaboration System, CCGT) and public databases (ClinVar and Human Gene Mutation Database) and reviewing HFI-related literature, we manually curated ALDOB pathogenic or likely pathogenic (P/LP) variants according to ACMG guidelines. Allele frequency (AF) information from the local database CCGT and the public databases HuaBiao and gnomAD for ALDOB P/LP variants was used to estimate and the HFI prevalence in the Chinese population and other populations by the Bayesian framework. We collected the genotype and clinical characteristics of HFI patients from the CCGT database and published literature to study genotype–phenotype relationships. Result In total, 81 variants of ALDOB were curated as P/LP. The estimated Chinese HFI prevalence was approximately 1/504,678, which was much lower than that for non-Finland European (1/23,147), Finnish in Finland (1/55,539), admixed American (1/132,801) and Ashkenazi Jewish (1/263,150) populations. By analyzing the genetic characteristics of ALDOB in the Chinese population, two variants (A338V, A338G) had significantly higher AFs in the Chinese population than in the non-Finland European population from gnomAD (all P values < 0.05). Five variants (A150P, A175D, N335K, R60*, R304Q) had significantly lower AFs (all P values < 0.1). The genotype–phenotype association analyses were based on 68 reported HFI patients from a literature review and the CCGT database. The results showed that patients carrying homozygous variant sites (especially A150P) were more likely to present nausea, and patients carrying two missense variant sites were more likely to present aversion to sweets and fruit (all P values < 0.05). Our research reveals that some gastrointestinal symptoms seem to be associated with certain genotypes. Conclusion The prevalence of HFI in the Chinese population is extremely low, and there is no need to add HFI testing to the current newborn screening programs if medical costs are considered. A genetic testing strategy is suggested for early diagnosis of HFI. |
| first_indexed | 2024-04-13T02:50:07Z |
| format | Article |
| id | doaj.art-10f52f9b8d5d4ff49a79d3321f7bc9b7 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T02:50:07Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-10f52f9b8d5d4ff49a79d3321f7bc9b72022-12-22T03:05:51ZengBMCOrphanet Journal of Rare Diseases1750-11722022-08-0117111010.1186/s13023-022-02487-3Estimation of hereditary fructose intolerance prevalence in the Chinese populationMeiling Tang0Xiang Chen1Qi Ni2Yulan Lu3Bingbing Wu4Huijun Wang5Zhaoqing Yin6Wenhao Zhou7Xinran Dong8Center for Molecular Medicine, Children’s Hospital of Fudan UniversityDepartment of Neonatology, Children’s Hospital of Fudan UniversityCenter for Molecular Medicine, Children’s Hospital of Fudan UniversityCenter for Molecular Medicine, Children’s Hospital of Fudan UniversityCenter for Molecular Medicine, Children’s Hospital of Fudan UniversityCenter for Molecular Medicine, Children’s Hospital of Fudan UniversityDepartment of Pediatrics, Dehong Hospital of Kunming Medical UniversityDepartment of Neonatology, Children’s Hospital of Fudan UniversityCenter for Molecular Medicine, Children’s Hospital of Fudan UniversityAbstract Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies. Materials and methods By searching a local cohort (Chinese Children’s Rare Disease Genetic Testing Clinical Collaboration System, CCGT) and public databases (ClinVar and Human Gene Mutation Database) and reviewing HFI-related literature, we manually curated ALDOB pathogenic or likely pathogenic (P/LP) variants according to ACMG guidelines. Allele frequency (AF) information from the local database CCGT and the public databases HuaBiao and gnomAD for ALDOB P/LP variants was used to estimate and the HFI prevalence in the Chinese population and other populations by the Bayesian framework. We collected the genotype and clinical characteristics of HFI patients from the CCGT database and published literature to study genotype–phenotype relationships. Result In total, 81 variants of ALDOB were curated as P/LP. The estimated Chinese HFI prevalence was approximately 1/504,678, which was much lower than that for non-Finland European (1/23,147), Finnish in Finland (1/55,539), admixed American (1/132,801) and Ashkenazi Jewish (1/263,150) populations. By analyzing the genetic characteristics of ALDOB in the Chinese population, two variants (A338V, A338G) had significantly higher AFs in the Chinese population than in the non-Finland European population from gnomAD (all P values < 0.05). Five variants (A150P, A175D, N335K, R60*, R304Q) had significantly lower AFs (all P values < 0.1). The genotype–phenotype association analyses were based on 68 reported HFI patients from a literature review and the CCGT database. The results showed that patients carrying homozygous variant sites (especially A150P) were more likely to present nausea, and patients carrying two missense variant sites were more likely to present aversion to sweets and fruit (all P values < 0.05). Our research reveals that some gastrointestinal symptoms seem to be associated with certain genotypes. Conclusion The prevalence of HFI in the Chinese population is extremely low, and there is no need to add HFI testing to the current newborn screening programs if medical costs are considered. A genetic testing strategy is suggested for early diagnosis of HFI.https://doi.org/10.1186/s13023-022-02487-3Hereditary fructose intolerancePrevalence estimationCuration for pathogenic variantsNewborn screeningAllele frequency comparison |
| spellingShingle | Meiling Tang Xiang Chen Qi Ni Yulan Lu Bingbing Wu Huijun Wang Zhaoqing Yin Wenhao Zhou Xinran Dong Estimation of hereditary fructose intolerance prevalence in the Chinese population Orphanet Journal of Rare Diseases Hereditary fructose intolerance Prevalence estimation Curation for pathogenic variants Newborn screening Allele frequency comparison |
| title | Estimation of hereditary fructose intolerance prevalence in the Chinese population |
| title_full | Estimation of hereditary fructose intolerance prevalence in the Chinese population |
| title_fullStr | Estimation of hereditary fructose intolerance prevalence in the Chinese population |
| title_full_unstemmed | Estimation of hereditary fructose intolerance prevalence in the Chinese population |
| title_short | Estimation of hereditary fructose intolerance prevalence in the Chinese population |
| title_sort | estimation of hereditary fructose intolerance prevalence in the chinese population |
| topic | Hereditary fructose intolerance Prevalence estimation Curation for pathogenic variants Newborn screening Allele frequency comparison |
| url | https://doi.org/10.1186/s13023-022-02487-3 |
| work_keys_str_mv | AT meilingtang estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT xiangchen estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT qini estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT yulanlu estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT bingbingwu estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT huijunwang estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT zhaoqingyin estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT wenhaozhou estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation AT xinrandong estimationofhereditaryfructoseintoleranceprevalenceinthechinesepopulation |