Richieri-Costa Antonio, Ribeiro Lucilene Arilho
Departamento de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Rua Silvio Marchioni 320, CEP 17012-900, Bauru, SP, Brazil.
Brain Dev. 2008 Mar;30(3):203-5. doi: 10.1016/j.braindev.2007.07.012. Epub 2007 Sep 6.
The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3, GLI2, and TGIF. This boy presented a p.K44N (c.132G>T) mutation in exon 2 of the TGIF gene which was inherited from his phenotypically normal mother. This mutation leads to lysine to arginine amino acid change and is predicted to be a damaging mutation. Clinical aspects involving variable phenotypical manifestations in different mutations of TGIF are discussed.
前脑无裂畸形（HPE）的病因和临床谱极为异质性。在此，我们报告一名患有叶型前脑无裂畸形的巴西男孩，该病例来自对60例患有HPE及HPE样表型患者的样本研究，并对主要HPE致病基因：音猬因子（SHH）、patched基因（PTCH）、Six3基因（SIX3）、Gli2基因（GLI2）和TG-interacting factor基因（TGIF）进行了分子分析筛查。这个男孩在TGIF基因的第2外显子中出现了一个p.K44N（c.132G>T）突变，该突变遗传自其表型正常的母亲。此突变导致赖氨酸变为精氨酸的氨基酸变化，预计为有害突变。文中还讨论了TGIF不同突变中涉及可变表型表现的临床情况。
