title: Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
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.
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark. am-bisgaard@dadlnet.dk
authors.forename: A-M
authors.initials: AM
authors.lastname: Bisgaard
authors.forename: M
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: J E
authors.initials: JE
authors.lastname: Nielsen
authors.forename: M
authors.initials: M
authors.lastname: Kibaek
authors.forename: A
authors.initials: A
authors.lastname: Lund
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: E
authors.initials: E
authors.lastname: Christensen
mesh_terms: D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: D002553:Cerebroside-Sulfatase