Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.

[adrenomyeloneuropathy]

X-linked adrenoleukodystrophy is a neurodegenerative disorder with highly variable clinical presentation , including the childhood cerebral form , adult form adrenomyeloneuropathy , and Addison disease . The biochemical hallmark of the disorder is the accumulation of saturated very long chain fatty acids in all tissues and body fluids . This accumulation results from mutations in the ABCD 1 gene localized to Xq 28 . Using polymerase chain reaction and direct sequencing of deoxyribonucleic acid , we identified five novel mutations , including a microdeletion (1624 del ATC ), a splicing site mutation (intervening sequence 1 [IVS 1 ] -2 a >c ), and three missense mutations (1172 T >C , 1520 G >A , and 1754 T >C ), from Taiwanese kindred with X-linked adrenoleukodystrophy . A polymorphism involving a single nucleotide deletion in the intervening sequence 5 (IVS 5 -6 del c ) of the ABCD 1 gene , previously misattributed as a mutation in the Chinese population , was also identified . The dinucleotide deletion (1415 del AG ) mutation common in Japan and Western countries was not found as frequently in the Chinese and Taiwanese populations . Instead , a higher mutation frequency was observed in exon 6 of the ABCD 1 gene among Japanese , Chinese , and Taiwanese kindred with X-linked adrenoleukodystrophy , representing a potential mutational hotspot for future mutational screening among these Asian populations .

Diseases
Validation

Diseases presenting "including the childhood cerebral form" symptom

adrenomyeloneuropathy

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