简体中文

GLI3

基因产物：Gli家族锌指结构3。

蛋白功能：作为转录因子影响一些基因的表达，在大脑的发育中发挥重要作用。

相关疾病：Greig头多指综合征（AD）[1]；Pallister-Hall综合症（AD）[2]；轴后多指型A1型和B型（AD）[3]；轴前多指畸形IV型（AD）[4]；下丘脑错构瘤[5]。

突变数据库：ClinVar数据库。

讨论版块：点击进入GLI3基因突变讨论版块。

 

参考文献

  1. Debeer, P., et al., Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.Am J Med Genet A, 2003. 120A(1): p. 49-58.
  2. Demurger, F., et al., New insights into genotype-phenotype correlation for GLI3 mutations.Eur J Hum Genet, 2015. 23(1): p. 92-102.
  3. Al-Qattan, M.M., A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.Clin Genet, 2012. 82(5): p. 502-4.
  4. Radhakrishna, U., et al., The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.Am J Hum Genet, 1999. 65(3): p. 645-55.
  5. Craig, D.W., et al., Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.Am J Hum Genet, 2008. 82(2): p. 366-74.