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Update on oral-facial-digital syndromes (OFDS)

机译：口腔面部数字综合征（ODDS）更新

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Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Preliminary data indicate a physical interaction among some of those proteins and future studies will clarify whether all OFDS proteins are part of a network functionally connected to cilia. Mutations in some of the genes can also lead to other types of ciliopathies with partially overlapping phenotypes, such as Joubert syndrome (JS) and Meckel syndrome (MKS), supporting the concept that cilia-related diseases might be a continuous spectrum of the same phenotype with different degrees of severity. To date, seven of the described OFDS still await a molecular definition and two unclassified forms need further clinical and molecular validation. Next-generation sequencing (NGS) approaches are expected to shed light on how many OFDS geneticists should consider while evaluating oral-facial-digital cases. Functional studies will establish whether the non-ciliary functions of the transcripts mutated in OFDS might contribute to any of the phenotypic abnormalities observed in OFDS.
机译：口腔数字综合征（OFDS）代表了一组异类的罕见发育障碍，它们会影响口腔，面部和手指。其他体征可能涉及大脑，肾脏和其他器官，因此可以更好地定义不同的临床亚型。除X连锁的OFD I型和VIII型外，大多数OFDS均以常染色体隐性遗传综合征的形式传播。已经发现许多基因在OFDS中发生了突变，并且大多数编码的蛋白质被预测或证明与初级纤毛/基底体功能有关。初步数据表明其中一些蛋白质之间存在物理相互作用，未来的研究将阐明所有OFDS蛋白质是否都是功能性连接纤毛的网络的一部分。一些基因的突变还可以导致其他类型的表型部分重叠的纤毛病，例如Joubert综合征（JS）和Meckel综合征（MKS），这支持纤毛相关疾病可能是同一表型的连续光谱的概念具有不同程度的严重性。迄今为止，所描述的OFDS中有七个仍在等待分子定义，并且两种未分类的形式需要进一步的临床和分子验证。下一代测序（NGS）方法有望阐明在评估口腔面部数字病例时应考虑多少OFDS遗传学家。功能研究将确定在OFDS中突变的转录本的非睫状功能是否可能导致在OFDS中观察到的任何表型异常。

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