13 research outputs found
Patient F2 (P1) MRI, age 3 years 3 months (A-D).
<p>Coronal T2-weighted (A), axial T2-weighted (B), axial diffusion (C), axial FLAIR (D) showing cerebellar atrophy (arrows) with widening of cerebellar folia (A), T2 normal signal intensity (arrows) of <i>globus </i><i>pallidus</i> (B), highlighted subtle iron deposition at globus pallidi (arrows) as reduction in signal intensity (C), and high signal intensity (arrows) at cerebral white matter (D). Patient F2 (P2) MRI, age 1 year 3 months (E-H)). Coronal T2-weighted (E), axialT2-weighted (F), axial diffusion (G), axial FLAIR (H) showing mild cerebellar atrophy (arrows) with mild widening of cerebellar folia (E), normal signal intensity (arrows) of <i>globus </i><i>pallidus</i> (F and G), and high signal intensity (arrows) at cerebral white matter (H).</p
Additional file 2: Table S3. of Characterizing the morbid genome of ciliopathies
Clinical and genomic data for all cases in the study. (XLSX 83 kb
Additional file 1: Figure S1. of Characterizing the morbid genome of ciliopathies
Bar graph showing the percentage of the main features for each distinct ciliopathy syndrome. (PPTX 70 kb
Additional file 6: Table S5. of Characterizing the morbid genome of ciliopathies
Ciliopathy disease burden in the population for each pathogenic variant identified in known ciliopathy genes. (XLSX 19 kb
Additional file 8: Table S1. of Characterizing the morbid genome of ciliopathies
List of diagnostic criteria used to clinically classify each ciliopathy. (XLSX 10 kb
Genetics findings.
<p>Pedigrees (Ped) of the six Saudi Arabian families (F1-6) are represented in the same order as in the tables and in Figure 7. Patients were also numbered according to the Tables. Haplotypes were reconstructed manually (Family F4 was not subjected to genotyping) and chromatograms of each identified mutation are shown, except Family F4 which had direct sequencing in a private company. The segregation of the mutation, when possible, was shown for each pedigree with the corresponding symbols (“+”= wild type and “-“= mutated).</p
Genotype-phenotype correlation.
<p>Graphic representation of the evolution exponential tendency curves of the functional disability (red curve and red squares) and of the age at onset of ataxia (blue curve and blue squares) which both seem to depend on the nature of the mutation. Each number in X axis corresponds to one patient. Below this axis are indicated the codes of patients (from Families 1 to 6) and the corresponding mutation. Y axis corresponds to the age per years. Two groups are identified (dashed ellipses) depending on the age at onset of ataxia. The first one encompasses the patients with ataxia manifesting at or before 15 months of age, and the second one, patients with an onset between 3 and 6 years. The age when becoming wheelchair-bound (red squares) and the disease duration (green triangles) are most prominent clusters in the second group. Abbreviations: wb = wheelchair-bound. Expon = exponential.</p
Patient F5 (P1) MRI, age 4 years 2 months (A-D), and 7 years 6 months (E-H).
<p>Sagittal T1-weighted (A and E), coronal T2-weighted (B and F), axial T2-weighted (C and G) and axial diffusion (D and H) sequences showing mild cerebellar cortical atrophy with mildly prominent folia (arrows in C). There is also simple corpus callosum (arrows in E). (F) Coronal T2-weighted reveals progressive cerebellar cortical atrophy and gliosis, with widening of folia and increased signal in the residual cerebellar cortex (arrow). Axial T2-weighted (G), and axial diffusion (H) sequences highlight iron deposition as reduction in signal intensity in the globus pallidi (arrows).</p
Additional file 3: of Characterizing the morbid genome of ciliopathies
Supplemental clinical data: clinical details for the affected cases with mutations in novel candidate genes. (DOCX 35 kb
Additional file 5: Table S4. of Characterizing the morbid genome of ciliopathies
Identification of TXNDC15 interacting proteins using tandem affinity purification (TAP). The list of 224 unique proteins is significantly enriched in known or predicted ciliary proteins. (XLSX 30 kb