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The homozygous missense variant of the MCCC2 gene c.1342GA (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis. A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis. To explore the genetic basis for a fetus with lissencephaly. Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis. The fetus was found to harbor a heterozygous 5.2 Mb
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