Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

被引:1255
作者
Mundlos, S
Otto, F
Mundlos, C
Mulliken, JB
Aylsworth, AS
Albright, S
Lindhout, D
Cole, WG
Henn, W
Knoll, JHM
Owen, MJ
Mertelsmann, R
Zabel, BU
Olsen, BR
机构
[1] HARVARD UNIV,SCH MED,CHILDRENS HOSP,DEPT CELL BIOL,BOSTON,MA 02115
[2] HARVARD UNIV,SCH MED,CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
[3] HARVARD UNIV,SCH MED,BETH ISRAEL DEACONESS MED CTR,DEPT PATHOL,BOSTON,MA 02115
[4] HARVARD UNIV,SCH MED,CHILDRENS HOSP,DIV PLAST SURG,BOSTON,MA 02115
[5] HARVARD UNIV,SCH DENT MED,HARVARD FORSYTH DEPT ORAL BIOL,BOSTON,MA 02115
[6] KLINIKUM ALBERT LUDWIGS UNIV,HAMATOL ONKOL ABT,D-79108 FREIBURG,GERMANY
[7] UNIV N CAROLINA,DEPT GENET,DIV GENET & METAB,CHAPEL HILL,NC 27599
[8] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,MGC,NL-3000 DR ROTTERDAM,NETHERLANDS
[9] HOSP SICK CHILDREN,DIV ORTHOPAED,TORONTO,ON M5G 1X8,CANADA
[10] UNIV SAARLAND,INST HUMANGENET,HOMBURG,GERMANY
[11] IMPERIAL CANC RES FUND,LONDON WC2A 3PX,ENGLAND
关键词
D O I
10.1016/S0092-8674(00)80260-3
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
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.
引用
收藏
页码:773 / 779
页数:7
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