Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-12

AUTHORS

Min-yan Jiang, Yan-na Cai, Cui-li Liang, Min-zhi Peng, Hui-ying Sheng, Li-ping Fan, Rui-zhu Lin, Hua Jiang, Yonglan Huang, Li Liu

ABSTRACT

X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients and 9 female carriers with X-linked adrenoleukodystrophy in South China. By sequencing the ABCD1 gene, 13 different mutations were identified, including 7 novel mutations, and 6 known mutations, and 1 reported polymorphism. Mutation c.1180delG was demonstrated to be de novo mutation. 26.3 % (5/19) patients carried the deletion c.1415_16delAG, which may be the mutational hot spot in South China population. In addition, 73.7 % (14/19) patients were type of childhood cerebral adrenoleukodystrophy, 26.3 %(5/19) were in Addison only. Half of the childhood cerebral adrenoleukodystrophy patients had the adrenocortical insufficiency preceded the onset of neurological symptoms. Furthermore, 5 of 19 cases underwent hematopoietic stem cell transplantation. Our data showed that hematopoietic stem cell transplantation performed at an advanced stage of the cerebral X- linked adrenoleukodystrophy would accelerate the progression of the disease. Good clinical outcome achieved when hematopoietic stem cell transplantation performed at the very early stage of the disease. More... »

PAGES

1439-1444

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11011-015-9717-6

DOI

http://dx.doi.org/10.1007/s11011-015-9717-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026715789

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26260157


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