范德伍综合征遗传学研究进展
摘要
由常染色体异质性显性遗传所引起的先天性下唇瘘复合颌面部软硬组织发育畸形,也称范德伍综合征。其主要临床特征为家族性下唇瘘以及唇裂和(或)腭裂。随着分子生物学的发展,该综合征的病因研究日益增多,本文就其临床表现、诊断与治疗,特别是遗传学研究作综述。
出处
《临床口腔医学杂志》
2013年第6期375-377,共3页
Journal of Clinical Stomatology
参考文献16
-
1Van der Woude A. Fistula labiii nferioris congenital and its assoeia- non with ctett IIp and palatelj]. Am J Hum Genet,IY:J4,b:L44-L:Jb.
-
2Schinzei A,Klausler M. The van der woude syndrome (dominantly in-herited lip pits and clefts)[J]. 10urnal of Medical Genetics,1986,23: 291-294.
-
3Onofre MA,Benedito BH,Urias B1, et al. Congenital fistulae of the lower lip in Van der Woude sydrome:a histomorphological study[J]. Cleft Palate Craniofac 1,1999,36 (l):79-85.
-
4Bocain M,Walker AP. Lip pits and deletion lq32-41[J]. Am 1 Med Genet, 1987,26(2):437 -443.
-
5Murray JC,Nishimura DY,Buetow KH,et al. Linkage of an autosomal dominant clefting syndrome (Van Der Woude) to loci on chromosome lq[J]. Am J Hunt Genet,1990,46(3):486-491.
-
6Sehutte BC,Bjork BC,Coppage KB,et al. A Preliminary gene map for the Van der Woude syndrome critical region derived from 900kb of genomic sequence at Iq32-q41[J]. Genome Res, 2000, 10 (1):81- 94.
-
7Kondo S, Schutte Be. Richardson RJ, et a1. Mutations in IRF6 cause Van der Woude and popliteal pteryium syndromes[J]. Nature Genet, 2002,32(2): 285-289.
-
8Baghestani S,Sadeghi N,Yavarian M,et al. Lower lip pits in a patient with van der Woude syndrome[J]. 1 Craniofac Surg , 2010, 21 (5): 1380-1381.
-
9Houdayer C, Soupre V, Karcenty B, et al. Iq32 -q41 mierodeletion with reference to Van der Woude syndrome and allied clefting enti-ties[J]. Am 1 Med Genet. 2000. 91(2):161-163.
-
10Salabshourifar I,Halim AS,Sulaiman W A,et al. De novo interstitial deletion of lq32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features[J]. Cytogenet Genome Res,20 11,134(2):83-87.
二级参考文献19
-
1Van der Woude A. Fisula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet, 1954, 6: 244
-
2Janku P, Robinow M, Kelly T. The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. Am J Med Genet, 1980, 5: 117
-
3Lacombe D, Pedespan JM, Fontan D. Phenotypic variability in van der Woude syndrome. Genet Couns, 1995, 6: 221
-
4Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet, 2002, 32: 285
-
5Ranta R, Rintala AE. Correlations between microforms of the van der woude syndrome and cleft palate. Cleft Palate J, 1983, 20: 158
-
6Ghassibe M, Revencu N, Bayet B, et al. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. J Med Genet, 2004, 41: e15
-
7Froster-Iskenius UG. Popliteal pterygium syndrome. J Med Genet, 1990, 27: 320
-
8Schutte BC, Bjork BC, Coppage KB, et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res, 2000, 10: 81
-
9Koillinen H, Wong FK, Rautio J, et al. Mapping of the second locus for the van der Woude syndrome to chromosome 1p34. Eur J Hum Genet, 2001, 9: 747
-
10Bocian M, Walker AP. Lip pits and deletion 1q32-41[J]. Am J Med Genet,1987,26 (2): 437-443.
共引文献2
-
1王晓方,李锦峰,张海兵,肖明振,史俊南,胡蓝靛,孔祥银.一个陕西汉族Van der Woude综合征家系IRF6基因的突变筛查[J].北京口腔医学,2005,13(1):50-52.
-
2陈丁莉,李守霞,焦建军,郭丽丽,张小芳,孙彩霞,要跟东.范德伍德综合征家系基因型与表型的研究[J].中国妇幼保健,2015,30(1):104-107.
-
1李午丽,梅陵宣.van der Woude综合征的研究进展[J].中国优生与遗传杂志,2007,15(11):122-123. 被引量:3
-
2刘庭庭,马洪,段晓峰.范德伍综合征1例报告[J].贵州医药,2015,39(9):834-834.
-
3缺牙镶哪种假牙好 范悦[J].新农村,1997,0(4):28-28.
-
4黄永清,石冰.干扰素调节因子-6基因多态性与非综合征型唇腭裂的相关性研究[J].国际口腔医学杂志,2007,34(2):119-121.
-
5张亨国,刘向辉.无牙颌患者种植修复的研究进展[J].口腔颌面外科杂志,2014,24(1):77-80. 被引量:4
-
6范德润.问牙9病[J].健康,2004,0(9):14-16.
-
7秦蕴.活动矫治器的功能与应用范围[J].家庭心理医生,2015,11(6):459-459.
-
8张吉梅,罗鹏,冯红超.干扰素调节因子6和视黄酸受体与非综合性唇腭裂的关系[J].贵阳医学院学报,2015,40(6):612-615.
-
9马果静.个别恒牙先天缺失显性遗传3例报道[J].中国医师杂志,2002,4(S1).
-
10冯淑敏,曾赞文,马强.自酸蚀封闭剂与光固化粘接剂配伍粘接正畸托槽临床应用评价[J].口腔材料器械杂志,2008,17(4):217-218.