Abstract:
:Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.
journal_name
Neuronjournal_title
Neuronauthors
Tsai MH,Muir AM,Wang WJ,Kang YN,Yang KC,Chao NH,Wu MF,Chang YC,Porter BE,Jansen LA,Sebire G,Deconinck N,Fan WL,Su SC,Chung WH,Almanza Fuerte EP,Mehaffey MG,University of Washington Center for Mendelian Genomics.,Ng CCdoi
10.1016/j.neuron.2020.01.027subject
Has Abstractpub_date
2020-04-22 00:00:00pages
237-245.e8issue
2eissn
0896-6273issn
1097-4199pii
S0896-6273(20)30053-2journal_volume
106pub_type
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