Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy

被引：8

作者：

Bertelli, M ^{[1
]}

Gallo, S ^{[1
]}

Buda, A ^{[1
]}

Cecchin, S ^{[1
]}

Fabbri, A ^{[1
]}

Lapucci, C ^{[1
]}

Andrighetto, G ^{[1
]}

Sidoti, V ^{[1
]}

Lorusso, L ^{[1
]}

Pandolfo, M ^{[1
]}

机构：

[1] Ist Malattie Rare Mauro Baschirotto BIRD Fdn Onlu, Med Genet Lab, I-36023 Costozza, Italy

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 2006年 / 13卷 / 04期

关键词：

metachromatic leukodystrophy; novel mutations; arylsulfatase A deficiency;

D O I：

10.1016/j.jocn.2005.03.039

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. Only one family carried a pseudo deficiency allele (Asn350Ser). The IVS2 + 1G > A mutation occurred in four families. We also identified three polymorphisms, all in heterozygosis: Thr391Ser was present in five families, Trp193Cys in four families, and Ala210Ala in one family. We could identify 100% of the alleles causing MLD in the families, involving 12 different mutations, resulting in improved prognosis and genetic counselling. (C) 2006 Elsevier Ltd. All rights reserved.

引用

页码：443 / 448

页数：6

共 18 条

[1] IDENTIFICATION OF 7 NOVEL MUTATIONS ASSOCIATED WITH METACHROMATIC LEUKODYSTROPHY [J].

BARTH, ML ;

FENSOM, A ;

HARRIS, A .

HUMAN MUTATION, 1995, 6 (02) :170-176

[2] PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUCODYSTROPHY ( SULPHATIDE LIPIDOSIS ) [J].

FULLERTON, PM .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1964, 27 (02) :100-+

[3] Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene [J].

Gallo, S ;

Randi, D ;

Bertelli, M ;

Salviati, A ;

Pandolfo, M .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (04) :655-657

[4] MOLECULAR-GENETICS OF METACHROMATIC LEUKODYSTROPHY [J].

GIESELMANN, V ;

ZLOTOGORA, J ;

HARRIS, A ;

WENGER, DA ;

MORRIS, CP .

HUMAN MUTATION, 1994, 4 (04) :233-242

[5] ARYLSULFATASE-A PSEUDODEFICIENCY - LOSS OF A POLYADENYLYLATION SIGNAL AND N-GLYCOSYLATION SITE [J].

GIESELMANN, V ;

POLTEN, A ;

KREYSING, J ;

VONFIGURA, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (23) :9436-9440

[6] Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation [J].

Gomez-Lira, M ;

Perusi, C ;

Mottes, M ;

Pignatti, PF ;

Manfredi, M ;

Rizzuto, N ;

Salviati, A .

HUMAN GENETICS, 1998, 102 (04) :459-463

[7]

Gort L, 1999, HUM MUTAT, V14, P240, DOI 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO

[8]

2-L

[9] AN ARYLSULFATASE-A (ARSA) MISSENSE MUTATION (T(274)M) CAUSING LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY [J].

HARVEY, JS ;

NELSON, PV ;

CAREY, WF ;

ROBERTSON, EF ;

MORRIS, CP .

HUMAN MUTATION, 1993, 2 (04) :261-267

[10]

HEINISCH U, 1995, AM J HUM GENET, V56, P51

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