Adrenoleukodystrophy: a case report and pedigree study associated with genetic research / 中华内分泌代谢杂志

ABSTRACT

Objective To analyse the clinical manifestations of adrenoleukodystrophy (ALD) pedigree and the background of the associated genes. Methods The clinical data of an ALD pedigree were collected and PCR productsequencingwereperformedtoresearch into the change of ALD gene. Results Diagnosis of ALD was determined by the clinical manifestations and brain MRI. The homozygote mutation GGG(Gly)→AGG(Arg) at codon 266 in exon 1 was found in the ALD patient and the heterozygote mutation at the same loci was found in his mother,butwasnotfoundin other members of the family and 2 normal subjects. Conclusions The ALD patient′s mother is the first person taking this point mutation and the mutation causes severe clinical manifestations. The gene research could be regarded as the molecular base of the antenatal diagnosis.