将与TCTN1相关的等位基因疾病扩展至包括瓦拉迪综合征（VI型口面指综合征）。
Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
作者信息
Al-Qattan Mohammad M, Shaheen Ranad, Alkuraya Fowzan S
机构信息
Department of Surgery, King Saudi University, Riyadh, Saudi Arabia.
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
出版信息
Am J Med Genet A. 2017 Sep;173(9):2439-2441. doi: 10.1002/ajmg.a.38336. Epub 2017 Jun 20.
Varadi syndrome is a subtype of orofaciodigital syndrome (OFDS) that combines the typical features of OFDS and the posterior fossa features of Joubert syndrome. The only gene known to be mutated in Varadi syndrome is C5ORF42. In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome.
瓦拉迪综合征是口面指综合征（OFDS）的一种亚型，它兼具OFDS的典型特征和乔伯特综合征的后颅窝特征。已知在瓦拉迪综合征中发生突变的唯一基因是C5ORF42。在本报告中，我们描述了一名患有瓦拉迪综合征患者的表型，该患者对于先前报道的TCTN1突变（NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8）是纯合子，并表明与TCTN1相关的等位基因疾病除了乔伯特综合征和梅克尔-格鲁伯综合征外，还包括瓦拉迪综合征。
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