Fig. 4.

Decreased expression of PAFAH1B1 in a patient with isolated lissencephaly sequence (ILS). a RT-PCR on RNA extracted from peripheral blood leukocytes revealed that the expression levels of PAFAH1B1, but not YWHAE, were decreased in this patient, while the expression levels of both the genes were decreased in a patient with Miller-Dieker syndrome (MDS). Note that a longer PAFAH1B1 mRNA (536 bp) was present in the patient with ILS at a low level along with the normal mRNA (314 bp). The quantitative results in the bar graph indicate PAFAH1B1 and YWHAE mRNA expression levels, relative to those of controls, and are shown as the mean ± SD (n = 3). Data are expressed in arbitrary units. b Sequencing analysis of the longer PAFAH1B1 transcript found in the patient confirmed the tandem duplication of exon 2