TP63 gene mutation in ADULT syndrome

被引：71

作者：

Amiel, J

Bougeard, G

Francannet, C

Raclin, V

Munnich, A

Lyonnet, S

Frebourg, T

机构：

[1] Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

[2] Hop Necker Enfants Malad, INSERM, U393, F-75743 Paris 15, France

[3] IFRMP, INSERM, EMI 9906, Fac Med & Pharm, F-76183 Rouen, France

[4] Hop Hotel Dieu, Dept Pediat, Unite Genet, F-63003 Clermont Ferrand, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2001年 / 9卷 / 08期

关键词：

ADULT syndrome; EEC syndrome; SHFM; TP63; limb abnormality;

D O I：

10.1038/sj.ejhg.5200676

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

TP63 gene mutations have recently been shown to be disease causing in EEC and SHFM. Two other overlapping syndromes with ectrodactyly as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the LMS and ADULT syndromes. Here, we report on a missense TP63 gene mutation in an isolated ADULT syndrome case. This finding widens the spectrum of abnormalities to be ascribed to TP63 gene in human and emphasise on the variable roles of the different Tp63 isotypes.

引用

页码：642 / 645

页数：4

共 12 条

[1] Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome [J].

Celli, J ;

Duijf, P ;

Hamel, BCJ ;

Bamshad, M ;

Kramer, B ;

Smits, APT ;

Newbury-Ecob, R ;

Hennekam, RCM ;

Van Buggenhout, G ;

van Haeringen, B ;

Woods, CG ;

van Essen, AJ ;

de Waal, R ;

Vriend, G ;

Haber, DA ;

Yang, A ;

McKeon, F ;

Brunner, HG ;

van Bokhoven, H .

CELL, 1999, 99 (02) :143-153

[2]

Francannet C., 1994, Genetic Counseling, V5, P85

[3]

Hagiwara K, 1999, CANCER RES, V59, P4165

[4] Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27 [J].

Ianakiev, P ;

Kilpatrick, MW ;

Toudjarska, I ;

Basel, D ;

Beighton, P ;

Tsipouras, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :59-66

[5] ADULT-SYNDROME - AN AUTOSOMAL-DOMINANT DISORDER WITH PIGMENT ANOMALIES, ECTRODACTYLY, NAIL DYSPLASIA, AND HYPODONTIA [J].

PROPPING, P ;

ZERRES, K .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (05) :642-648

[6]

Propping P, 2000, AM J MED GENET, V90, P179, DOI 10.1002/(SICI)1096-8628(20000117)90:2<179::AID-AJMG21>3.0.CO

[7]

2-M

[8]

Van Bokhoven H, 2000, AM J HUM GENET, V67, P41

[9] Limb mammary syndrome:: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27 [J].

van Bokhoven, H ;

Jung, M ;

Smits, APT ;

van Beersum, S ;

Rüschendorf, F ;

van Steensel, M ;

Veenstra, M ;

Tuerlings, JHAM ;

Mariman, ECM ;

Brunner, HG ;

Wienker, TF ;

Reis, A ;

Ropers, HH ;

Hamel, BCJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :538-546

[10] Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome [J].

Wessagowit, V ;

Mellerio, JE ;

Pembroke, AC ;

McGrath, JA .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2000, 25 (05) :441-443

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