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Figure 1 | BMC Medical Genetics

Figure 1

From: Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

Figure 1

Coats plus syndrome phenotype and mutation analysis of theCTC1andHES7in the family. i) Pedigree diagram. ii-A) Photograph showing greying of the hair, right corneal opacity and leukocoria. ii-B) X-ray chest showing the presence of dextrocardia. ii-C) CT scan of the brain showing calcifications in bilateral thalamus, right parieto-occipital and left parietal regions. ii-D) An X-ray image of the lateral view of the skull showing the presence of intracranial calcifications. ii-E) Brain-MRI:Axial T1W image showing mixed intensity solid cystic lesion in the bilateral thalami. ii-F) Axial T2W image showing hyperintense lesion with few areas of T2 shortening and abundant perilesional edema. ii-G) Susceptibility weighted image (SWI) showing abundant susceptibility within the lesion as well as in the rest of the neuroparenchyma. ii-H&I) Similar lesions noted in the pons with abundant signal changes, susceptibility and edema. In addition, T2W axial image shows retinal detachment in the right eyeball. ii-J) SWI phase image showing hypointense signal intensity in the areas of blooming, which suggests the presence of calcification within the lesion. iii) Sequencing chromatograms from the affected individual (II-1) and both parents (I-1 and I-2). Note the nucleotide change A > C (arrow) in a homozygous state in the affected individual II-1 and in a heterozygous state in both parents. DNA from the unaffected individual II-2 was not available for genetic analysis. iv) Conservation of the H (histidine) residue across different species in the CTC1 protein. v) sequencing chromatogram of HES7 3′UTR variation (T > C change, arrow marked) from affected individual (II-1), heterozygous parent(Mother) and a healthy control subject.

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