Open AccessComprehensive genotype-phenotype correlation in lissencephaly
Author(s) -
Ai Peng Tan,
W.K. Chong,
Kshitij Mankad
Publication year - 2018
Publication title -
quantitative imaging in medicine and surgery
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.766
H-Index - 21
eISSN - 2223-4292
pISSN - 2223-4306
DOI - 10.21037/qims.2018.08.08
Subject(s) - lissencephaly , phenotype , genotype , biology , microtubule , genotype phenotype distinction , identification (biology) , gene , genetics , pachygyria , botany
Malformations of cortical development (MCD) are a heterogenous group of disorders with diverse genotypic and phenotypic variations. Lissencephaly is a subtype of MCD caused by defect in neuronal migration, which occurs between 12 and 24 weeks of gestation. The continuous advancement in the field of molecular genetics in the last decade has led to identification of at least 19 lissencephaly-related genes, most of which are related to microtubule structural proteins (tubulin) or microtubule-associated proteins (MAPs). The aim of this review article is to bring together current knowledge of gene mutations associated with lissencephaly and to provide a comprehensive genotype-phenotype correlation. Illustrative cases will be presented to facilitate the understanding of the described genotype-phenotype correlation.