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. 2018 Jul 19;103(2):296–304. doi: 10.1016/j.ajhg.2018.06.011

Figure 1.

Figure 1

Clinical and Genetic Information for families A and B

(A and B) Family pedigrees for families A and B. Affected children in both families are from consanguineous parents (double line indicates first cousins).

(C–H) T1-weighted (D and F–H), T2-weighted (E), and FLAIR (C) MRI for individuals A-III-1 (C and D), A-III-2 (E and F), and B-III-2 (G and H). Shown are sagittal (C, E, and G) and axial (D, F, and H) images. Arrowheads indicate the corpus callosum hypoplasia common to all three affected children. Other brain regions appear largely unaffected with the exception of mild cerebellar affectation in A-III-2 and B-III-2.

(I) Schematic of LNPK depicts the genomic sequence spanning 13 exons. Red lines indicate the position of the two mutations in exon 10 and show their coordinates within the cDNA (GenBank: NM_030650.2).

(J) Schematic of the lunapark protein (LNP) depicts the location of the two transmembrane domains (red) and the zinc finger (yellow). N and C indicate the N and C termini of the protein, respectively. Red lines indicate the position of the two truncating mutations upstream of the zinc finger and the effect of the two mutations on the protein level (GenBank: NP_085153.1).