ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.

[adrenomyeloneuropathy]

X-linked adrenoleukodystrophy (X-ALD ) is a neurodegenerative disorder resulting from mutations within the ABCD 1 gene . Adrenomyeloneuropathy (AMN ) and childhood cerebral ALD (CCALD ) are most common phenotypes in the Western ALD patients . Here we performed mutation analysis of ABCD 1 in 10 Chinese ALD families and identified 8 mutations , including one novel deletion (c .1477 _1488 +11 del 23 ) and 7 known mutations . Mutations c .1772 G >A and c .1816 T >C were first reported in the Chinese patients . Mutations c .1661 G >A and c .1679 C >T were demonstrated to be de novo mutations . The dinucleotide deletion 1415 _16 delAG , described as a mutational hotspot in different ethnic groups , was identified in two families . In addition , we performed a retrospective nation-wide mutation study of X-linked ALD in China based on a literature review . The retrospective study further confirmed the hypothesis that exon 6 is a potential mutation cluster region in the Asian populations . Furthermore , it suggested that CCALD is the most common phenotype in China .

Diseases
Validation

Diseases presenting "common phenotype" symptom

adrenomyeloneuropathy

krabbe disease

x-linked adrenoleukodystrophy

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