title: 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.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Min-yan
authors.initials: MY
authors.lastname: Jiang
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Yan-na
authors.initials: YN
authors.lastname: Cai
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Cui-li
authors.initials: CL
authors.lastname: Liang
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Min-zhi
authors.initials: MZ
authors.lastname: Peng
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Hui-ying
authors.initials: HY
authors.lastname: Sheng
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Fan
authors.affiliation: Department of Hematology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Rui-zhu
authors.initials: RZ
authors.lastname: Lin
authors.affiliation: Department of Hematology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
authors.forename: Yonglan
authors.initials: Y
authors.lastname: Huang
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China. liliuxia@hotmail.com.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000309:Adrenal Insufficiency / Q000209:etiology / Q000235:genetics; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000473:pathology / Q000628:therapy; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002681:China; D018450:Disease Progression; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D017353:Gene Deletion; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009422:Nervous System Diseases / Q000209:etiology / Q000235:genetics; D059906:Neuroimaging; D013997:Time Factors; D055815:Young Adult
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005227:Fatty Acids; D000324:Adrenocorticotropic Hormone
keywords: ABCD1; Adrenocortical insufficiency; Missense mutation; VLCFAs; X-linked adrenoleukodystrophy