(A) Cranial FLAIR MRI of the proband at 21 months of age showing mild diffuse cerebral atrophy, particularly in the frontal lobes, and bilateral posterior periventricular white matter changes. (B) Transmission electron micrographs of a representative lymphocyte from the proband showing GROD-like material (arrows) and curvilinear inclusion bodies (inset) characteristic of late-infantile NCL and variant forms. Magnification 26,000X; inset: 105,000X. Scale bar, 1 μm. (C) Upper panel: Electropherogram from Sanger sequencing of the proband showing the heterozygous c.61 C > T change in exon 1 of CLN5, which predicts a p.Pro21Ser missense change. Lower panel: A portion of the tiling microarray spanning the CLN5 locus showing a ~2.8 kb one-copy loss (chr13:77569502–77572394) present in the proband but not in either parent. Coordinates reflect human genome build 19.
Staropoli et al. BMC Medical Genetics 2012 13:50 doi:10.1186/1471-2350-13-50