Phenotype: Adrenoleukodystrophy


OMIM: 300100
Inheritance: X-linked recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

ABCD1 || c.686T>C (1072T>C)

Gene/Locus:    ABCD1
Dna Change:    c.686T>C (1072T>C)
Protein Change:    p.Leu229Pro
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 1
Transcript:    NM_000033.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNA3 families/10 unrelated familiesNANeumann S et al., 2001Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R, . Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.. Genet. Test.. 2001; 5(1):65-8

References

Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R, Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.Genet. Test.. 2001; 5(1):65-8