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

Figure 2

Pedigree diagrams and genetic analysis of two cases. (a), (c) Pedigree diagrams of the case one and case two with X-linked ALD, respectively. Empty square and circle show healthy male and female. Dark square represents patients with X-ALD. Diagonal stripes show heterozygous carrier. Arrow represents hemizygous proband. (b) Genetic analysis revealing novel mutation of c.874_876delGAG (p.Glu292del) of ABCD1 gene in patient one (proband III-7) and his mother (II-10). (d) Novel mutation c.96_97delCT (p.Tyr33Profs161) detected in patient two (proband III-4).

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