ArticleBMC pediatrics2015
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
Article in BMC pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review.Intractable & rare diseases research · 2026Review
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- The incidence and clinical characteristics of fragile X syndrome in China.Frontiers in pediatrics · 2023Article
- The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.Frontiers in pediatrics · 2022Article
- FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.World journal of pediatrics : WJP · 2021Article
- Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.Orphanet journal of rare diseases · 2020Article
- Article
- dFmr1 Plays Roles in Small RNA Pathways of Drosophila melanogaster.International journal of molecular sciences · 2017Review
- Fragile X Syndrome: Prevalence, Treatment, and Prevention in China.Frontiers in neurology · 2017Review
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainland China is unknown.
methodsPatients with unknown moderate to severe IDD were recruited from two children's hospitals. Informed consent was obtained from the children's parents. The size of the CGG repeat was identified using a commercial TP-PCR assay. The influence of AGG interruptions on the CGG expansion during maternal transmission was analyzed in 24 mother-son pairs (10 pairs with 1 AGG and 14 pairs with 2 AGGs).
results553 unrelated patients between six months and eighteen years of age were recruited. Specimens from 540 patients (male:female = 5.2:1) produced high-quality TP-PCR data, resulting in the determination of the FMR1 CGG repeat number for each. The most common repeat numbers were 29 and 30, and the most frequent interruption pattern was 2 or 3 AGGs. Five full mutations were identified (1 familial and 4 sporadic IDD patients), and size mosaicism was apparent in 4 of these FXS patients (4/5 = 80%). The overall yield of FXS in the IDD cohort was 0.93% (5/540). Neither the mean size of CGG expansion (0.20 vs. 0.79, p > 0.05) nor the frequency of CGG expansion (2/10 vs. 9/14, p > 0.05) was significantly different between the 1 and 2 AGG groups following maternal transmission.
conclusionsThe FMR1 TP-PCR assay generates reliable and sensitive results across a large number of patient specimens, and is suitable for clinical genetic diagnosis. Using this assay, the prevalence of FXS was 0.93% in Chinese children with unknown IDD.
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