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A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease
Author(s) -
Kroepfl Th.,
Paul K.,
Kotanko P.,
Plecko B.,
Paschke E.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1022833332162
Subject(s) - fabry disease , exon , medicine , asymptomatic , alpha galactosidase , daughter , phenotype , enzyme replacement therapy , disease , cardiomyopathy , mutation , genotype , gastroenterology , endocrinology , genetics , gene , heart failure , biology , evolutionary biology
Summary : A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non‐obstructive cardiomyopathy) at around 30 years of age. His leukocyte α‐galactosidase activity (α‐gal) was 2.6% of controls. A 50‐year‐old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity. All three patients carried a novel, 6bp insertion on exon 7 of the AGAL gene. The majority of male Fabry patients carrying mutations in exon 7 have residual α‐gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset. The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest.