KIRREL3基因突变引起生长迟缓和 智力缺陷1例报道

潘维伟, 李在玲

中国儿童保健杂志 ›› 2021, Vol. 29 ›› Issue (4) : 463-464.

PDF(369 KB)
PDF(369 KB)
中国儿童保健杂志 ›› 2021, Vol. 29 ›› Issue (4) : 463-464. DOI: 10.11852/zgetbjzz2020-0891
个案报道

KIRREL3基因突变引起生长迟缓和 智力缺陷1例报道

  • 潘维伟, 李在玲
作者信息 +
文章历史 +

引用本文

导出引用
潘维伟, 李在玲. KIRREL3基因突变引起生长迟缓和 智力缺陷1例报道[J]. 中国儿童保健杂志. 2021, 29(4): 463-464 https://doi.org/10.11852/zgetbjzz2020-0891
中图分类号: R725.9   

参考文献

[1] Strünkelnberg M, Bonengel B, Moda LM, et al.Rst and its paralogue kirre act redundantly during embryonic muscle development in Drosophila[J].Development,2001,128 (21):4229-4239.
[2] Prince JE, Brignall AC, Cutforth T,et al.Kirrel3 is required for the coalescence of vomeronasal sensory neuron axons into glomeruli and for male-male aggression[J].Development,2013,140(11):2398-2408.
[3] Martin EA,Muralidhar S, Zhirong W,et al.The intellectual disability gene Kirrel3 regulates target-specific mossy fiber synapse development in the hippocampus[J].Elife,2015,17(4):e09395.
[4] Tamir-Livne Y, Mubariki R, Bengal E.Adhesion molecule Kirrel3/Neph2 is required for the elongated shape of myocytes during skeletal muscle differentiation[J].Int J Dev Biol,2017,61(3-5):337-345.
[5] Peter JD, Johannes DC, Mari V, et al.Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle[J].BMC Physiol,2014,14(9):11.
[6] Bhalla K, Luo Y, Buchan T, et al.Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability[J].Am J Hum Genet,2008,83(6):703-713.
[7] Guerin A, Stavropoulos DJ, Diab Y, et al.Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome[J].Am J Med Genet A,2012,158A(10):2551-2556.
[8] Su-Yeon C, Kihoon H, Tyler C,et al.Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference.[J].Front Cell Neurosci,2015,28(9):283.
[9] Hisaoka T, Komori T, Kitamura T, et al.Abnormal behaviours relevant to neurodevelopmental disorders in Kirrel3-knockout mice[J].Sci Rep,2018, 8(1):1408.
[10] Lazaro MT, Golshani P.The utility of rodent models of autism spectrum disorders[J].Curr Opin Neurol,2015,28(2):103-109.
[11] Baig DN, Yanagawa T, Tabuchi K.Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders[J].Brain Res Bull,2017,129(3):82-90.

PDF(369 KB)

Accesses

Citation

Detail

段落导航
相关文章

/