国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2008年
3期
193-195,205
,共4页
EVC%EVC2%Ellis-van Creveld综合征%Weyers颅面骨发育不全
EVC%EVC2%Ellis-van Creveld綜閤徵%Weyers顱麵骨髮育不全
EVC%EVC2%Ellis-van Creveld종합정%Weyers로면골발육불전
EVC%EVC2%Ellis-van Creveld syndrome%Weyers acrodental dysostosis
Ellis-van Creveld综合征(EvC)是一种常染色体隐性遗传病,临床主要表现为短肢、短肋、轴后多指(趾)、牙齿及指(趾)甲发育不良,口腔系带异常增多,心脏房室隔缺损和单个心房.EvC具有遗传异质性,由EVC或EVC2基因突变引起.Weyers颅面骨发育不全(Weyers acrodental dysostosis)作为一种常染色体显性遗传病,具有相似的临床表现和等位遗传异质性.现将EVC、EVC2基因与这两种遗传病的关系及最新研究进展作一综述.
Ellis-van Creveld綜閤徵(EvC)是一種常染色體隱性遺傳病,臨床主要錶現為短肢、短肋、軸後多指(趾)、牙齒及指(趾)甲髮育不良,口腔繫帶異常增多,心髒房室隔缺損和單箇心房.EvC具有遺傳異質性,由EVC或EVC2基因突變引起.Weyers顱麵骨髮育不全(Weyers acrodental dysostosis)作為一種常染色體顯性遺傳病,具有相似的臨床錶現和等位遺傳異質性.現將EVC、EVC2基因與這兩種遺傳病的關繫及最新研究進展作一綜述.
Ellis-van Creveld종합정(EvC)시일충상염색체은성유전병,림상주요표현위단지、단륵、축후다지(지)、아치급지(지)갑발육불량,구강계대이상증다,심장방실격결손화단개심방.EvC구유유전이질성,유EVC혹EVC2기인돌변인기.Weyers로면골발육불전(Weyers acrodental dysostosis)작위일충상염색체현성유전병,구유상사적림상표현화등위유전이질성.현장EVC、EVC2기인여저량충유전병적관계급최신연구진전작일종술.
Ellis-van Creveld syndrome(EvC)is an autosomal recessive chondrodysplasia characterized by short limbs and short ribs,postaxial polydactyly,dysplastic nails and teeth,atrial septal or atrioventricular septal defect and single atrium.EvC revealed genetic heterogeneity,and are caused by mutations of EVC or EVC2 gene.Weyers acrodental dysostosis,an autosomal dominant inherited disease,has the similar clinical manifestation and is allelic heterogeneity of EvC syndrome.Here,we review the latest progression of the relationship between EVC、EVC2 and two hereditary diseases.
