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

Table 2

Mutations of ABCD1 gene in the pedigrees of X-ALD.

No.	Nucleotide mutations	Amino acid variants	Exon	Variation type	Inheritance	ESP6500	1000G	dbSNP	PROVEAN score	Mutation taster	Pathogenicity evaluation
Case 1	c.874_876delGAG	p.Glu292del	1	Deletion	Familial	ND	ND	ND	−13.987 (deleterious)	Disease causing	Likely pathogenic (PM2 + PM4, PP3 + PP4 + PP5)
Case 2	c.874_876delGAG	p.Tyr33Profs161	1	Deletion	Familial	ND	ND	ND	−6.7 (deleterious)	Disease causing	Pathogenic (PVS1, PM2 + PM4, PP3 + PP4 + PP5)

ND, not detected. Pathogenicity evaluation of American College of Medical Genetics (ACMG) guideline. PROVEAN score (cutoff = −2.5)