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

被引：17

作者：

Bisgaard, A-M ^{[1
]}

Kirchhoff, M. ^{[1
]}

Nielsen, J. E. ^{[2
]}

Kibaek, M. ^{[3
]}

Lund, A. ^{[1
]}

Schwartz, M. ^{[1
]}

Christensen, E. ^{[1
]}

机构：

[1] Univ Copenhagen Hosp, Rigshosp, Dept Clin Genet, DK-2100 Copenhagen O, Denmark

[2] Univ Copenhagen Hosp, Hvidovre Hosp, Dept Paediat, DK-2100 Copenhagen, Denmark

[3] Odense Univ Hosp, Dept Paediat, Odense, Denmark

来源：

CLINICAL GENETICS | 2009年 / 75卷 / 02期

关键词：

22q13; deletion; array-CGH; arylsulfatase A; metachromatic leukodystrophy; COMPARATIVE GENOMIC HYBRIDIZATION; RING CHROMOSOME-22; ABNORMALITIES; MUTATIONS; GENE;

D O I：

10.1111/j.1399-0004.2008.01113.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Bisgaard A-M, Kirchhoff M, Nielsen JE, Kibk M, Lund A, Schwartz M, Christensen E. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.Clin Genet 2009: 75: 175-179. (C) Blackwell Munksgaard, 2008 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.

引用

页码：175 / 179

页数：5

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