[Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].
OBJECTIVE
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).


METHODS
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).


RESULTS
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.


CONCLUSIONS
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.
Liu
He-jun
HJ
Department of Cardiology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Cao
Ke-jiang
KJ
Li
Cheng-rang
CR
Dai
Jian
J
Ma
Ji-zheng
JZ
Yong
Yong-hong
YH
Sun
Wei
W
D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis*; D002648:Child; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase