GLI3基因介绍
- 凤凰
- 话题作者
- 铂金战士
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GLI3基因介绍 创建者 凤凰(仅代表作者观点,不作为诊疗依据)
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]。
参考文献
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]。
参考文献
- 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.
- Demurger, F., et al., New insights into genotype-phenotype correlation for GLI3 mutations.Eur J Hum Genet, 2015. 23(1): p. 92-102.
- 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.
- 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.
- 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.
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