Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

ABSTRACT:

Background

Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis. Neuronal migration involves many gene products, among which is the product of the PAFAH1B1 gene, associated with this disease. LIS is a rare disease, characterized by low population frequency, and with non-specific clinical symptoms such as early epilepsy, developmental delay or cerebral palsy-like motor problems. Given that high-throughput sequencing techniques have been improving diagnosis, we have chosen this technique for addressing this patient.

Case presentation

We present the case of a seven years old male patient with an undiagnosed rar

SUBMITTER: Simoes C 

PROVIDER: S-EPMC9472359 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature