Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations

doi:10.3892/etm.2019.7760

科研成果详情

题名	Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations
作者	Wang, Yangyang1,2; Chen, Xiang 1,2; Liu, Chan1,2; Wu, Shamin 1,2; Xie, Qingfeng 1,2; Hu, Quan1,2; Chen, Shan1,2; Liu, Yiwei1,2
发表日期	2019-09
发表期刊	EXPERIMENTAL AND THERAPEUTIC MEDICINE 影响因子和分区
语种	英语
原始文献类型	Article
关键词	metachromatic leukodystrophy arylsulfatase A mutation analysis whole-exome sequencing attention deficit hyperactivity disorder
其他关键词	NERVOUS-SYSTEM ; PSEUDODEFICIENCY ; PATTERNS ; ALLELE
摘要	Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive lysosomal storage disease. The disease is primarily caused by a deficiency in the enzyme arylsulfatase A (ASA), which is encoded by the ARSA gene. A total of 254 mutations have been reported in different populations. The present study aimed to detect causative gene mutations in an atypical case presenting with attention deficit hyperactivity disorder through whole-exome sequencing. Of note, the patient's mother is from a consanguineous family. Compound heterozygous variants (c.1297C>G) + (c.1345G>A) [(p.Leu433Val) + (p.Gly449Arg)] were identified in exon 8 in the ARSA gene of the pediatric patient. The two missense mutations identified have not been previously reported, to the best of our knowledge. Furthermore, an in silico analysis and multiple phylogenetic tree analyses of ARSA homologs were performed to predict the effects of the two novel mutations. Serial changes were observed in the patient with MLD at follow-up visits over 6 years. However, brain MRI images demonstrated no notable progression and the number of ASA enzymes was stable. Also, the results of neurodevelopmental assessment showed that the patient was diagnose with ADHD. These data may offer a potential explanation of the genotype-phenotype correlation in MLD and enhance the spectrum of mutations associated with the condition.
出版者	SPANDIDOS PUBL LTD
出版地	ATHENS
ISSN	1792-0981
EISSN	1792-1015
卷号	18 期号:3 页码:1738-1744
DOI	10.3892/etm.2019.7760
页数	7
WOS类目	Medicine, Research & Experimental
WOS研究方向	Research & Experimental Medicine
WOS记录号	WOS:000487358600030
收录类别	SSCI ; SCIE ; PUBMED
URL	查看原文
PubMed ID	31410132
PMC记录号	PMC6676083
通讯作者地址	[Chen, Xiang]Wenzhou Med Univ, Affiliated Hosp 2, Dept Rehabil, 109 Xueyuanxi Rd, Wenzhou 325000, Zhejiang, Peoples R China. ; [Chen, Xiang]Wenzhou Med Univ, Yuying Childrens Hosp, 109 Xueyuanxi Rd, Wenzhou 325000, Zhejiang, Peoples R China.
引用统计	被引频次：4[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/2967
专题	附属第二医院_康复科第二临床医学院，附属第二医院、育英儿童医院
通讯作者	Chen, Xiang
作者单位	1.Wenzhou Med Univ, Affiliated Hosp 2, Dept Rehabil, 109 Xueyuanxi Rd, Wenzhou 325000, Zhejiang, Peoples R China; 2.Wenzhou Med Univ, Yuying Childrens Hosp, 109 Xueyuanxi Rd, Wenzhou 325000, Zhejiang, Peoples R China
第一作者单位	附属第二医院_康复科; 第二临床医学院，附属第二医院、育英儿童医院
通讯作者单位	附属第二医院_康复科; 第二临床医学院，附属第二医院、育英儿童医院
第一作者的第一单位	附属第二医院_康复科
推荐引用方式 GB/T 7714	Wang, Yangyang,Chen, Xiang,Liu, Chan,et al. Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations[J]. EXPERIMENTAL AND THERAPEUTIC MEDICINE,2019,18(3):1738-1744.
APA	Wang, Yangyang., Chen, Xiang., Liu, Chan., Wu, Shamin., Xie, Qingfeng., ... & Liu, Yiwei. (2019). Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations. EXPERIMENTAL AND THERAPEUTIC MEDICINE, 18(3), 1738-1744.
MLA	Wang, Yangyang,et al."Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations".EXPERIMENTAL AND THERAPEUTIC MEDICINE 18.3(2019):1738-1744.