Monozygotic twins with variable expression of Van der Woude syndrome.
Monozygotic twins with variable expression of Van der Woude syndrome.
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范德沃德综合征的不同表达的同卵双胞胎。
DOI：
10.1002/ajmg.a.34022
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Thomas,MaryAnn
中科院分区：
文献类型：
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作者：
Jobling,Rebekah;Ferrier,RaechelA;McLeod,Ross;Petrin,AlineLourenco;Murray,JeffreyC;Thomas,MaryAnn
范德伍德综合征(VWS)是一种常染色体显性遗传模式的孟德尔病。它是综合征性口面部裂伤的常见原因，占唇腭裂(CL/P)病例的2%[Schutte等人，1996]。下唇凹陷，通常是双侧，是VWS中最常见的先天性畸形[Cervenka等，1967]。唇裂(CL)和腭裂(CP)的表型在同一个家族中混合存在，这是少数几个常见的综合征之一。我们报告一例确诊的单卵(MZ)女性双胞胎，均因IRF6突变而感染VWS，但具有明显不同的表型。据我们所知，这样的病例以前没有报道过，这为这种情况的表达的修饰因素提供了进一步的证据。G1P0妇女，怀孕单绒毛膜，直径的女性双胞胎，由于在20周的产前超声检查中发现双胞胎A的双侧唇腭裂，被提交到产前遗传学诊所。双胞胎B似乎没有受到影响，除此之外，两人的超声波检查都是正常的。父亲的双侧下唇窝家族史阳性，以及许多患有唇腭裂、腭裂、唇裂和/或唇窝的父系家庭成员(图1)。随后，这对双胞胎的父亲接受了检查，发现他有双侧副正中下唇凹陷，但没有口腔裂伤。根据这一信息，双胞胎A可能被诊断为VWS。这家人被建议双胞胎B可能也具有这种情况的特征，因为考虑到单绒毛膜单纯性，单合子的可能性很高。
Van der Woude Syndrome [VWS] is a Mendelian disorder with an autosomal dominant inheritance pattern. It is a common cause of syndromic orofacial clefting, accounting for 2% of cleft lip and palate (CL/P) cases [Schutte et al., 1996]. Lower lip pits, usually bilateral, are the most common congenital malformation in VWS [Cervenka et al., 1967]. It is one of the few syndromes where it is common to find a mixture of cleft lip (CL) and cleft palate (CP) phenotypes in the same family. We present a case of confirmed monozygotic (MZ) female twins both affected with VWS due to an IRF6 mutation, but with markedly different phenotypes. To our knowledge, a case such as this has not previously been reported, and contributes further evidence for modifying factors in the expression of this condition.A G1P0 woman, pregnant with monochorionic, diamniotic female twins, presented to the Prenatal Genetics Clinic due to the finding of bilateral cleft lip and palate in Twin A on the 20-week antenatal ultrasound. Twin B appeared to be unaffected, and the ultrasound for both was otherwise normal. Family history was positive for bilateral lower lip pits in the father, as well as numerous members of the paternal family with cleft lip and palate, cleft palate, cleft lip and/or lip pits (Fig. 1). The twins' father was subsequently examined and found to have bilateral paramedian lower lip pits, but no orofacial clefting. Given this information, a probable diagnosis of VWS was made for Twin A. The family was counseled that Twin B might also have features of this condition, since the likelihood of monozygosity was high, given the monochorionicity.