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Open Access 01-12-2015 | Research article

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, Gary J. Latham, Yuwu Jiang

Published in: BMC Pediatrics | Issue 1/2015

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.

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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
Gary J. Latham
Yuwu Jiang
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2015
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-015-0394-8

2024 ASCO Annual Meeting

Springer Medicine

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder

Abstract

Background

Methods

Results

Conclusions

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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