ESPE Abstracts (2016) 86 RFC1.4

ESPE2016 Rapid Free Communications Adrenals (8 abstracts)

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Dung Vu a , Ngoc Khanh Nguyen a , Thu Ha Nguyen a , Phuong Thao Bui a , Thi Bich Ngoc Can a , Phu Dat Nguyen a & Nobuyuki Shimozawa b

aVietnam National Children’s Hospital, Hanoi, Viet Nam;
bGifu University School of Medicine, Gifu, Japan

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.

Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.

Method: Genomic DNA from 16 Vietnamese patients from 14 unrelated families was extracted using standard procedures from the peripheral blood leukocytes. Mutation analysis of ABCD1 was performed using Polymerase chain reaction (PCR) and DNA direct sequencing.

Results: We identified 13 different mutations of ABCD1 in 16 patients including missense mutations (8/13), deletion (4/13) and splice site mutation (1/13). Of which, six novel mutations including c.1202G>T (p.Arg401Trp); c.1208T>A (p.Met403Lys); IVS8+28-551bp del; c.1668G>C (p.Q556H); c.292_296delTCGGC (p.S98RfsX95); and the extent of deletion included between IVS1+505 and IVS2+1501, containing whole the exon 2 (4243bp), plus insertion of 79bp from BAP31 and 8bp from unknown origin in this deleted region were identified in six unrelated patients. Seven reported mutations including c.1628C>T (p.Pro543Leu); c.1553G>A (p.Arg518Gln); c.1552 C>T (p.Arg518Trp); c.854G>C (p.R285P); c.1825G>A (p.E609K); c.1415_1416delAG (p.Q472RfsX83) and c.46-53del insG were identified in 9 patients from 7 families.

Conclusion: Mutation analysis of ABCD1 helped confirmation of diagnosis of X-ALD, genetic counselling and prenatal diagnosis.

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