Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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ABSTRACT:
SUBMITTER: Tsai MH
PROVIDER: S-EPMC7357395 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Publications
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Tsai Meng-Han MH Muir Alison M AM Wang Won-Jing WJ Kang Yi-Ning YN Yang Kun-Chuan KC Chao Nian-Hsin NH Wu Mei-Feng MF Chang Ying-Chao YC Porter Brenda E BE Jansen Laura A LA Sebire Guillaume G Deconinck Nicolas N Fan Wen-Lang WL Su Shih-Chi SC Chung Wen-Hung WH Almanza Fuerte Edith P EP Mehaffey Michele G MG Ng Ching-Ching CC Chan Chung-Kin CK Lim Kheng-Seang KS Leventer Richard J RJ Lockhart Paul J PJ Riney Kate K Damiano John A JA Hildebrand Michael S MS Mirzaa Ghayda M GM Dobyns William B WB Berkovic Samuel F SF Scheffer Ingrid E IE Tsai Jin-Wu JW Mefford Heather C HC
Neuron 20200224 2
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 individual ...[more]
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