Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.
Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers. We tried to facilitate diagnosis of heterozygous Fabry patients by detailed clinical examination. We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family. Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients. Interestingly, all the males and females had corneal verticilata by slit lamp examination. However, there was no association of serum AGA activity with renal function or pain symptom scores. The results indicated that detailed ocular and neurological examination might provide an alternative way of detecting heterozygous patients. We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.
Ro
L-S
LS
Department of Neurology, Chang Gung Memorial Hospital and University, Taipei, Taiwan.
Chen
C-M
CM
Chang
H-S
HS
Lyu
R-K
RK
Wu
Y-R
YR
Hsu
W-C
WC
Lee-Chen
G-J
GJ
D044466:Asian People / Q000235:genetics; D003316:Corneal Diseases / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis / Q000379:methods; D000795:Fabry Disease / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010147:Pain Measurement; D010375:Pedigree; D011237:Predictive Value of Tests; D011788:Quality of Life; D051437:Renal Insufficiency / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D012727:Sex Characteristics; D020521:Stroke / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D013624:Taiwan / Q000208:ethnology; D000519:alpha-Galactosidase / Q000235:genetics*
D005819:Genetic Markers; D000519:alpha-Galactosidase