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- Title
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
- Authors
Xiaoli Chen; Jingmin Wang; Hua Xie; Wenjuan Zhou; Ye Wu; Jun Wang; Jian Qin; Jin Guo; Qiang Gu; Xiaozhen Zhang; Taoyun Ji; Yu Zhang; Zhiming Xiong; Liwen Wang; Xiru Wu; Latham, Gary J.; Yuwu Jiang
- Abstract
Background: Fragile 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. Methods: Patients 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). Results: 553 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. Conclusions: The 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.
- Subjects
DIAGNOSIS of fragile X syndrome; GENETIC disorders in children; MEDICAL screening; CHINESE people; INTELLECTUAL development; DISEASE prevalence; DISEASES
- Publication
BMC Pediatrics, 2015, Vol 15, Issue 1, p1
- ISSN
1471-2431
- Publication type
Article
- DOI
10.1186/s12887-015-0394-8