10 research outputs found
Supplementary Video 1.mp4
Supplementary Video 1. Neurological examination at the age of 13 years. The patient shows oppositional behavior, attention deficit, and easy distractibility. He has expressive language impairment with dyslalia and shows motor tics.</p
FISH results.
<p>a) FISH with specific subtelomeric 7q probe (red) confirmed the presence of the unbalanced translocation both in the patient and mother. b) FISH with oligonucleotide-based probe 15q13.3 (green signal) and BAC RP11-231A23 (red signal) on the metaphase of the mother in family 1 showing the deletion on a chromosome 15 (arrow). The arrowhead indicates the normal chromosome 15. c) FISH with oligonucleotide-based probe 15q13.3 (green signal) and BAC RP11-231A23 (red signal) on the metaphase of the proband in family 1 showing the duplication on a chromosome 15 (arrow). The arrowhead indicates the normal chromosome 15.FISH performed with the same probes on the metaphase of the mother showed normal signals only on both chromosome 15 (data not showed). d) FISH with oligonucleotide-based probe 22q11.21 (red signal) and BAC RP11-1143M16 (green signal) on the metaphase of the proband in family 2 confirming that large and short deletions are on the same chromosome 22. Arrowhead shows the normal chromosome 22 and arrow the deleted chromosome 22.</p
Family 2, array-CGH results.
<p>a) Array-CGH graphical overview of 22q11.21 deletion (large deletion) of the proband. b) Enlargement of the deleted region spanned 1.417 Mb from oligonucleotide A_16_P41477688 (18,894,835 bp) to A_14_P200761(20,311,763 bp). c) Enlargement of the 22q11.23 deleted region (short deletion) spanned 247 Kb from oligonucleotide A_14_P133174 (25,664,618 bp) to A_18_P13974242 (25,911,651 bp) inherited from his father. d) Enlargement of the 15q26.3 duplicated region spanned 484.3 Kb from oligonucleotide A_16_P20368426 (100,051,182 bp) to A_14_P110953 (100,996,155 bp) of the proband and inherited from his father.</p
Additional file 1: of Sacral agenesis: a pilot whole exome sequencing and copy number study
Supplementary Methods and Material. (DOCX 51 kb
Additional file 2: of Sacral agenesis: a pilot whole exome sequencing and copy number study
All called variants after QC and MAF. (XLSX 1329 kb
Schematic representation of PDCD10 protein with its domains and the main interactors.
<p>Mutations are reported.</p
Pedigrees of the 11 patient harbouring a <i>PDCD10</i>/CCM3 mutation.
<p>The arrow indicates the index case. Squares represent males; circles, females. A diagonal line through the symbol represents a deceased person.</p
Patients' clinical features.
<p>Y = Yes; N = No; nr =  not reported; ni =  not investigated.</p><p>Patients' clinical features.</p
1–3 MRI/TC scans from subjects
<p>: 1) 454CCM patient harbouring the <i>de novo</i> and novel mutation p.E54Rfs*22. A) T1 sagittal image at 16 months showing a cavernous malformation with recent bleeding in the pons; B) T1 axial image at 25 months showing increased size of the pontine cavernous malformation with compression on the mesencephalon, the cisterna interpeduncularis and the cisterna pontis. 2) 321CCM patient harbouring the mutation p.R35X. A) Imaging characteristics of the CCM lesion (in the white circle) located at the left anterior temporal lobe: at CT scan the lesion is inhomogeneous due to haemorrhagic components, B and D) the haemorrhagic component is hyperintense both in T1 and in T2 sequences, C) contrast enhancement is absent, E) and at GET2* the lesion is hypointense due to the paramagnetic characteristics of the haemosiderin ring and of the clotted lesion content. F) Finally, other two lesions can be detected at other sites (arrows) in the same patient. 3) 344CCM patient harbouring the novel mutation p.R54X. A) MRI showed a right cortical and subcortical parietal hemorrhagic CCM lesion (arrow) and other non-hemorrhagic CCM lesions at different sites: bilateral temporal polar (not shown), B) left superior temporal sulcus (arrow) and right parietal (arrowhead), left insular and fronto-insular (not shown), C) left frontal parasagittal (arrow), subcortical frontal with small areas of vacuolization and microcalcification, left posteromedial thalamic (not shown).</p
Details of Patients' mutation.
<p>Y =  Yes; N = No. Nomenclature according to HGVS.</p><p>Details of Patients' mutation.</p