THE GENETIC-BASIS OF DWARFISM

被引：35

作者：

FRANCOMANO, CA

机构：

[1] National Center for Human Genome Research, Bethesda

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1995年 / 332卷 / 01期

关键词：

D O I：

10.1056/NEJM199501053320113

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Achondroplasia, the most common form of dwarfism, is inherited as an autosomal dominant trait with complete penetrance. With an estimated frequency of between 1 per 15,000 and 1 per 40,000 live births, it is one of the more common mendelian disorders. Although the severity of the medical complications associated with achondroplasia is variable, the physical and radiographic features of the disorder (short limbs with a normal trunk) are remarkably consistent. Homozygous achondroplasia (occurring in one quarter of the offspring of two parents with achondroplasia) is inevitably fatal in the first year or two of life. Both people with achondroplasia and… © 1995, Massachusetts Medical Society. All rights reserved.

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页码：58 / 59

页数：2

相关论文

共 10 条

[1] LOCALIZATION OF THE ACHONDROPLASIA GENE TO THE DISTAL 2.5 MB OF HUMAN-CHROMOSOME-4P [J].

FRANCOMANO, CA ;

DELUNA, RIO ;

HEFFERON, TW ;

BELLUS, GA ;

TURNER, CE ;

TAYLOR, E ;

MEYERS, DA ;

BLANTON, SH ;

MURRAY, JC ;

MCINTOSH, I ;

HECHT, JT .

HUMAN MOLECULAR GENETICS, 1994, 3 (05) :787-792

[2] THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING [J].

HASTBACKA, J ;

DELACHAPELLE, A ;

MAHTANI, MM ;

CLINES, G ;

REEVEDALY, MP ;

DALY, M ;

HAMILTON, BA ;

KUSUMI, K ;

TRIVEDI, B ;

WEAVER, A ;

COLOMA, A ;

LOVETT, M ;

BUCKLER, A ;

KAITILA, I ;

LANDER, ES .

CELL, 1994, 78 (06) :1073-1087

[3]

IWAMOTO M, 1991, J BIOL CHEM, V266, P461

[4] ISOLATION OF AN ADDITIONAL MEMBER OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR FAMILY, FGFR-3 [J].

KEEGAN, K ;

JOHNSON, DE ;

WILLIAMS, LT ;

HAYMAN, MJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (04) :1095-1099

[5]

KOEBERL DD, 1990, AM J HUM GENET, V47, P202

[6]

LEMERRER M, 1994, NAT GENET, V6, P318

[7] MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME [J].

REARDON, W ;

WINTER, RM ;

RUTLAND, P ;

PULLEYN, LJ ;

JONES, BM ;

MALCOLM, S .

NATURE GENETICS, 1994, 8 (01) :98-103

[8] MUTATIONS IN THE GENE ENCODING FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN ACHONDROPLASIA [J].

ROUSSEAU, F ;

BONAVENTURE, J ;

LEGEAIMALLET, L ;

PELET, A ;

ROZET, JM ;

MAROTEAUX, P ;

LEMERRER, M ;

MUNNICH, A .

NATURE, 1994, 371 (6494) :252-254

[9] MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA [J].

SHIANG, R ;

THOMPSON, LM ;

ZHU, YZ ;

CHURCH, DM ;

FIELDER, TJ ;

BOCIAN, M ;

WINOKUR, ST ;

WASMUTH, JJ .

CELL, 1994, 78 (02) :335-342

[10] THE GENE FOR ACHONDROPLASIA MAPS TO THE TELOMERIC REGION OF CHROMOSOME 4P [J].

VELINOV, M ;

SLAUGENHAUPT, SA ;

STOILOV, I ;

SCOTT, CI ;

GUSELLA, JF ;

TSIPOURAS, P .

NATURE GENETICS, 1994, 6 (03) :314-317