Two novel missense mutations causing adrenoleukodystrophy in Italian patients

被引：6

作者：

Perusi, C

Gomez-Lira, M

Mottes, M

Pignatti, PF

Bertini, E

Cappa, M

Vigliani, MC

Schiffer, D

Rizzuto, N

Salviati, A

机构：

[1] Univ Verona, Inst Biol & Gent, I-37134 Verona, Italy

[2] Univ Verona, Dip Sci Neurol & Vis, I-37100 Verona, Italy

[3] Osped Bambino Gesu, Dip Neurol, Rome, Italy

[4] Univ Turin, Dipartimento Neurosci, Turin, Italy

来源：

MOLECULAR AND CELLULAR PROBES | 1999年 / 13卷 / 03期

关键词：

adrenoleukodystrophy; missense mutations;

D O I：

10.1006/mcpr.1999.0232

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case. (C) 1999 Academic Press.

引用

收藏

页码：179 / 182

页数：4

相关论文

共 15 条

[1] THE PROTEIN CODED BY THE X-ADRENOLEUKODYSTROPHY GENE IS A PEROXISOMAL INTEGRAL MEMBRANE-PROTEIN [J].

CONTRERAS, M ;

MOSSER, J ;

MANDEL, JL ;

AUBOURG, P ;

SINGH, I .

FEBS LETTERS, 1994, 344 (2-3) :211-215

[2]

Dodd A, 1997, HUM MUTAT, V9, P500

[3] IDENTIFICATION OF MUTATIONS IN THE PUTATIVE ATP-BINDING DOMAIN OF THE ADRENOLEUKODYSTROPHY GENE [J].

FANEN, P ;

GUIDOUX, S ;

SARDE, CO ;

MANDEL, JL ;

GOOSSENS, M ;

AUBOURG, P .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (02) :516-520

[4]

Feigenbaum V, 1996, AM J HUM GENET, V58, P1135

[5] RESTRICTION SITE GENERATING-POLYMERASE CHAIN-REACTION (RG-PCR) FOR THE PROBELESS DETECTION OF HIDDEN GENETIC-VARIATION - APPLICATION TO THE STUDY OF SOME COMMON CYSTIC-FIBROSIS MUTATIONS [J].

GASPARINI, P ;

BONIZZATO, A ;

DOGNINI, M ;

PIGNATTI, PF .

MOLECULAR AND CELLULAR PROBES, 1992, 6 (01) :1-7

[6]

Gomez Lira M, 1995, HUM GENET, V96, P417

[7]

Imanaka T, 1996, J BIOL CHEM, V271, P3706

[8] MUTATIONAL ANALYSIS OF PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY [J].

KOK, F ;

NEUMANN, S ;

SARDE, CO ;

ZHENG, S ;

WU, KH ;

WEI, HM ;

BERGIN, J ;

WATKINS, PA ;

GOULD, S ;

SACK, G ;

MOSER, H ;

MANDEL, JL ;

SMITH, KD .

HUMAN MUTATION, 1995, 6 (02) :104-115

[9] Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy adrenomyeloneuropathy [J].

Krasemann, EW ;

Meier, V ;

Korenke, GC ;

Hunneman, DH ;

Hanefeld, F .

HUMAN GENETICS, 1996, 97 (02) :194-197

[10] A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern [J].

LombardPlatet, G ;

Savary, S ;

Sarde, CO ;

Mandel, JL ;

Chimini, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (03) :1265-1269