Open AccessSuccessful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene
Author(s) -
Sang Trieu Tien,
Tam Vu Van,
Nhat Nguyen Ngoc,
My Tran Ngoc Thao,
Khoa Tran Van,
Dinh Vu Nhat,
N. Binh
Publication year - 2021
Publication title -
application of clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 32
ISSN - 1178-704X
DOI - 10.2147/tacg.s318884
Subject(s) - adrenoleukodystrophy , genetics , preimplantation genetic diagnosis , sanger sequencing , biology , mutation , peroxisomal disorder , allele , gene , medicine , pregnancy , peroxisome
Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. ABCD1 is a gene related to ALD, with more than 850 unique mutations have been reported. Early diagnosis of the disease would help to consult families with ALD to plan for interventions to prevent passing along the pathogenic mutations to their children.