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

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.

• 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
• Journal: Metabolic brain disease (Metab Brain Dis) Vol. 30 Issue 6 Pg. 1439-44 (Dec 2015) ISSN: 1573-7365 [Electronic] United States
• PMID: 26260157 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ABCD1 protein, human
• ATP Binding Cassette Transporter, Subfamily D, Member 1
• ATP-Binding Cassette Transporters
• Fatty Acids
• Adrenocorticotropic Hormone

Topics

• ATP Binding Cassette Transporter, Subfamily D, Member 1
• ATP-Binding Cassette Transporters (genetics)
• Adrenal Insufficiency (etiology, genetics)
• Adrenocorticotropic Hormone (blood)
• Adrenoleukodystrophy (genetics, pathology, therapy)
• Adult
• Asian People (genetics)
• Brain (pathology)
• Child, Preschool
• China
• Disease Progression
• Fatty Acids (metabolism)
• Female
• Gene Deletion
• Hematopoietic Stem Cell Transplantation (adverse effects)
• Humans
• Infant
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Mutation
• Nervous System Diseases (etiology, genetics)
• Neuroimaging
• Time Factors
• Young Adult