Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

TY - JOUR

T1 - Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

AU - Bisgaard, A-M

AU - Kirchhoff, M

AU - Nielsen, J E

AU - Kibaek, M

AU - Lund, A

AU - Schwartz, M

AU - Christensen, E

N1 - Keywords: Alleles; Cerebroside-Sulfatase; Child, Preschool; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 22; Genes, Recessive; Humans; Infant; Leukodystrophy, Metachromatic; Male; Mental Retardation; Mutation; Syndrome

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

U2 - 10.1111/j.1399-0004.2008.01113.x

DO - 10.1111/j.1399-0004.2008.01113.x

M3 - Journal article

C2 - 19054018

SN - 0009-9163

VL - 75

SP - 175

EP - 179

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -