PMC10196526_01
PMC10196526_02
Clinical and molecular genetic features of child with cerebello-retinal-renal phenotype.. A. Pedigree diagram; squares, males; circles, females; shaded, affected. B. Photograph of proband aged 3 years, showing right ptosis. C. Brain MRI demonstrating molar tooth sign (arrowed). D. Abdominal MRI demonstrating bilateral enlarged kidneys. E. Sanger sequencing showing homozygous pathogenic frameshift mutation segregating from each parent. F. gnomAD frequencies of pathogenic allele CEP290 NM_25114 c.5493delA; A1832Pfs*19 and CEP290 protein showing domain structure and location of frameshift mutation which truncates C-terminal domains.
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PMC10196526_02_f1000research-11-145997-g0000.jpg
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Molecular genetic analysis using exome sequencing and Sanger sequence confirmation revealed a homozygous frameshift mutations c.5493delA; p.A1832fs*19 in CEP290 ( Figure 1).