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Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Clinical genetics - 1 Oct 2025

Dong Sen-Wei, Xiao Li-Mei, Sun Yu-Hao, Li Gui-He, Xie Ying-Xuan, Wang Meng-Wen, Wang Ning, Chen Wan-Jin, Chen Hai-Zhu

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X-ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC (p.Arg234Profs*67), c.743G>A (p.Gly248Asp), c.1469_1471delTGG (p.Val490del), c.1577C>A (p.Thr526Lys), and c.1658T>C (p.Leu553Pro), which were reported for...

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Identifiers

PMID: 40210590
DOI: 10.1111/cge.14752

Genes

ABCD1

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