A novel MSX1 mutation in hypodontia

被引：81

作者：

De Muynck, S

Schollen, E

Matthijs, G

Verdonck, A

Devriendt, K

Carels, C

机构：

[1] Katholieke Univ Leuven, Fac Med, Sch Dent, Dept Orthodont, B-3000 Louvain, Belgium

[2] Katholieke Univ Leuven Hosp, Ctr Human Genet, B-3000 Louvain, Belgium

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 128A卷 / 04期

关键词：

MSX1; PAX9; oligodontia; autosomal dominant;

D O I：

10.1002/ajmg.a.30181

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in G1n187Stop) in three individuals of one family. (C) 2004 Wiley-Liss, Inc.

引用

页码：401 / 403

页数：3

共 22 条

[1]

AASHEIM B, 1993, SCAND J DENT RES, V101, P257

[2] Testing candidate genes for non-syndromic oral clefts using a case-parent trio design [J].

Beaty, TH ;

Hetmanski, JB ;

Zeiger, JS ;

Fan, YT ;

Liang, KY ;

VanderKolk, CA ;

McIntosh, I .

GENETIC EPIDEMIOLOGY, 2002, 22 (01) :1-11

[3] A case-control study of nonsyndromic oral clefts in Maryland [J].

Beaty, TH ;

Wang, H ;

Hetmanski, JB ;

Fan, YT ;

Zeiger, JS ;

Liang, KY ;

Chiu, YF ;

Vanderkolk, CA ;

Seifert, KC ;

Wulfsberg, EA ;

Raymond, G ;

Panny, SR ;

McIntosh, I .

ANNALS OF EPIDEMIOLOGY, 2001, 11 (06) :434-442

[4] Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population [J].

Blanco, R ;

Chakraborty, R ;

Barton, SA ;

Carreño, H ;

Paredes, M ;

Jara, L ;

Palomino, H ;

Schull, WJ .

HUMAN BIOLOGY, 2001, 73 (01) :81-89

[5] Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia [J].

Das, P ;

Hai, M ;

Elcock, C ;

Leal, SM ;

Brown, DT ;

Brook, AH ;

Patel, PI .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 118A (01) :35-42

[6] A novel mutation in human PAX9 causes molar oligodontia [J].

Frazier-Bowers, SA ;

Guo, DC ;

Cavender, A ;

Xue, L ;

Evans, B ;

King, T ;

Milewicz, D ;

D'Souza, RN .

JOURNAL OF DENTAL RESEARCH, 2002, 81 (02) :129-133

[7]

Gabris K, 2001, Fogorv Sz, V94, P137

[8]

Grahnen H, 1956, ODONT REVY S3, V7, P1

[9] A nonsense mutation in MSX1 causes Witkop syndrome [J].

Jumlongras, D ;

Bei, M ;

Stimson, JM ;

Wang, WF ;

DePalma, SR ;

Seidman, CE ;

Felbor, U ;

Maas, R ;

Seidman, JG ;

Olsen, BR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :67-74

[10] The role of MSX1 in human tooth agenesis [J].

Lidral, AC ;

Reising, BC .

JOURNAL OF DENTAL RESEARCH, 2002, 81 (04) :274-278

← 1 2 3 →