ABSTRACT
<p><b>OBJECTIVE</b>To screen gene mutation in alpha-galactosidase A (alpha-Gal A) in a nonconsanguineous Chinese family with Fabry disease (FD) with clinical manifestations similar to hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>Mutation analysis was performed by using purified PCR products to direct sequence analysis on an ABI-377XL automated DNA sequencer. DNA analysis of alpha-Gal A gene and physical and clinical examinations were performed in a female proband and in her relatives (15 subjects in total).</p><p><b>RESULTS</b>Three hemizygotes and 6 heterozygotes were diagnosed for FD by the alpha-Gal A gene analysis with a missense mutation in exon 5 of the alpha-Gal A sequence, leading to a TGG32TGA substitution, which may induce the absent of tryptophan's translation (corresponded to TGG) by the terminator codon TGA. Six patients in the family were revealed as HCM by echocardiography.</p><p><b>CONCLUSIONS</b>Present results show that it is important to differentiate FD from other causes of hypertrophy in patients with cardiac hypertrophy. Screening for alpha-Gal A gene mutations in patients with FD and in their relatives could help to identify all suspected cases within the families.</p>