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首页> 美国卫生研究院文献>Journal of Medical Genetics >Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes including Okihiro syndrome Holt-Oram syndrome acro-renal-ocular syndrome and patients previously reported to represent thalidomide embryopathy
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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes including Okihiro syndrome Holt-Oram syndrome acro-renal-ocular syndrome and patients previously reported to represent thalidomide embryopathy

机译：20号染色体上SALL4基因座的突变会导致一系列临床重叠的表型包括Okihiro综合征Holt-Oram综合征顶肾肾综合征和以前报道为沙利度胺胚胎病的患者

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We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13.13-13.2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in part resulting from mutation of the TBX5 locus, as well as acro-renal-ocular syndrome. We analysed further families/patients with the clinical diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for SALL4 mutations. We identified a novel SALL4 mutation in one family where the father was originally thought to have thalidomide embryopathy and had a daughter with a similar phenotype. We also found two novel mutations in two German families originally diagnosed as Holt-Oram syndrome and a further mutation in one out of two families carrying the diagnosis acro-renal-ocular syndrome. Our results show that some cases of "thalidomide embryopathy" might be the result of SALL4 mutations, resulting in an increased risk for similarly affected offspring. Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations.
机译：我们最近显示，Okihiro综合征是由20q13.13-13.2染色体上假定的锌指转录因子基因SALL4突变引起的。 Okihiro综合征的临床特征与其他疾病（尤其是Holt-Oram综合征）的临床特征有相当多的重叠，Holt-Oram综合征部分是由于TBX5基因座突变以及顶肾肾综合征引起的。我们分析了具有Holt-Oram综合征和Acro-肾眼综合征的临床诊断的SALL4突变的其他家庭/患者。我们在一个家庭中发现了一个新的SALL4突变，该家庭最初认为父亲患有沙利度胺的胚胎病，并育有一个具有相似表型的女儿。我们还发现了两个最初被诊断为Holt-Oram综合征的德国家庭中的两个新突变，以及两个携带诊断为顶肾肾综合征的家庭中的两个突变。我们的结果表明，“沙利度胺胚胎病”的某些情况可能是SALL4突变的结果，导致受类似影响的后代的风险增加。此外，我们在分子水平上确认了顶肾眼综合征与冲广综合征的重叠，并扩展了SALL4突变的表型。

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