Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy
Joint Authors
Yang, Zhixian
Xiao, Jiangxi
Chen, Li
Yan, Huifang
Cao, Binbin
Wu, Ye
Gu, Qiang
Yang, Yanling
Shi, Zhen
Pan, Hong
Chang, Xingzhi
Chen, Junya
Sun, Yu
Zhang, Yuehua
Wu, Xiru
Jiang, Yuwu
Wang, Jingmin
Yang, Huixia
Source
International Journal of Genomics
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-03
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Objective.
Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems.
Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients.
Methods.
Clinical data of 21 MLD patients was collected.
All coding exons of ARSA and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing.
Results.
All 21 patients were diagnosed with MLD clinically and genetically, out of which 17 patients were late infantile and 4 were juvenile types.
A total of 34 ARSA mutations, including 28 novel mutations (22 missense, 1 splicing, 1 nonsense, 3 small insertions, and 1 small deletion mutation) and 6 known mutations (5 missense and 1 small insertion mutation), were identified.
Prenatal diagnosis was performed for four pedigrees.
One fetus was a patient, two fetuses were carriers, and two were wild type.
Conclusions.
The present study discovered 28 novel ARSA mutations and widely expanded the mutation spectrum of ARSA.
Four successful prenatal diagnoses provided critical information for MLD families.
American Psychological Association (APA)
Chen, Li& Yan, Huifang& Cao, Binbin& Wu, Ye& Gu, Qiang& Xiao, Jiangxi…[et al.]. 2018. Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy. International Journal of Genomics،Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1172692
Modern Language Association (MLA)
Chen, Li…[et al.]. Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy. International Journal of Genomics No. 2018 (2018), pp.1-9.
https://search.emarefa.net/detail/BIM-1172692
American Medical Association (AMA)
Chen, Li& Yan, Huifang& Cao, Binbin& Wu, Ye& Gu, Qiang& Xiao, Jiangxi…[et al.]. Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy. International Journal of Genomics. 2018. Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1172692
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172692