Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.

ABSTRACT:

Background

Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X-linked adrenoleukodystrophy (X-ALD). This study focused on the characteristics of ABCD1 variants in Chinese X-ALD families and elucidated the value of genetic approaches for X-ALD.

Methods

68 male probands diagnosed as X-ALD were screened for ABCD1 variants by the Sanger sequencing of polymerase chain reaction (PCR) products and multiplex ligation-dependent probe amplification (MLPA) combined with long-range PCR. Prenatal diagnosis was performed in 20 foetuses of 17 probands' mothers. Descriptive statistics were used to summarise the gene variants and prenatal diagnosis characteristics and outcomes.

Results

This study allowed the identification of 61 variants

SUBMITTER: Liu S 

PROVIDER: S-EPMC8801145 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature