Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy |
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| Authors: | A-M Bisgaard,M Kirchhoff,JE Nielsen,M Kibæ k,A Lund,M Schwartz,E Christensen |
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| Affiliation: | Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark;, Department of Paediatrics, Hvidovre Hospital, University Hospital of Copenhagen, Denmark;, and Department of Paediatrics, Odense University Hospital, Denmark |
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| Abstract: | ![]()
A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene ( ARSA ) and succumbed to metachromatic leukodystrophy (MLD). The other patient had a pseudoallele, which does not lead to MLD. The presenting clinical features and low arylsulfatase A activity were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA . |
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| Keywords: | 22q13 deletion array-CGH arylsulfatase A metachromatic leukodystrophy |
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