Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

Figure 4

ABCD1 gene reported from the ALD mutation database. (a) Mutation sites types of variants of ABCD1 gene among reported nonrecurrent and other mutation sites, including pathogenic, synonymous, benign, variants of undetermined significance (VUS), and screening of newborns state of unknown (UN). (b) The content of ABCD1 mutations, including points mutations, deletion, del-insertion, insertion, and duplication (http://www.x-ald.nl/). (c) The distribution of mutations, including point mutation, deletion, del-insertion, insertion, and duplication. Most of the mutations harboring in exon 1. The lower panel shows the mutation rate in each exon. Bold shows the location of two novel mutations indicated in this study.

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