Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia
نویسندگان
چکیده
منابع مشابه
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs
BACKGROUND Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus,...
متن کاملInteraction between LIS1 and doublecortin, two lissencephaly gene products.
Mutations in either LIS1 or DCX are the most common cause for type I lissencephaly. Here we report that LIS1 and DCX interact physically both in vitro and in vivo. Epitope-tagged DCX transiently expressed in COS cells can be co-immunoprecipitated with endogenous LIS1. Furthermore, endogenous DCX could be co-immunoprecipitated with endogenous LIS1 in embryonic brain extracts, demonstrating an in...
متن کاملPeripheral retinal nonperfusion associated with optic nerve hypoplasia and lissencephaly.
patient with West Nile virus infection. Arch Ophthalmol. 2003;121(2):205-207. 2. Garg S, Jampol LM. Systemic and intraocular manifestations of West Nile virus infection. Surv Ophthalmol. 2005;50(1):3-13. 3. Garg S, Jampol LM, Wilson JF, Batlle IR, Buettner H. Ischemic and hemorrhagic retinal vasculitis associated with West Nile virus infection. Retina. 2006; 26(3):365-367. 4. Chan CK, Limstrom ...
متن کاملIdentification of a 31-bp Deletion in the RELN Gene Causing Lissencephaly with Cerebellar Hypoplasia in Sheep
Lissencephaly is an inherited developmental disorder in which neuronal migration is impaired. A type of lissencephaly associated with cerebellar hypoplasia (LCH) was diagnosed in a commercial flock of Spanish Churra sheep. The genotyping of 7 affected animals and 33 controls with the OvineSNP50 BeadChip enabled the localization of the causative mutation for ovine LCH to a 4.8-Mb interval on she...
متن کاملPoint mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing beta-transducin like repeats, now known as LIS1, was previously...
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ژورنال
عنوان ژورنال: Integrative Pediatrics and Child Care
سال: 2019
ISSN: 2637-966X
DOI: 10.18314/ipcc.v2i1.1695