12 research outputs found
Aortic features in different subgroups.
<p>Abdominal aortic dissection is abdominal aortic dissection not related to thoracic aortic dissection extension. Asymptomatic subjects are patients without demonstration of any feature.</p
Mutations identified in the <i>SMAD3</i> gene.
<p>Mutations identified in the <i>SMAD3</i> gene.</p
Electroneuromyography in patients with severe neurologic symptoms.
<p>Electroneuromyography in patients with severe neurologic symptoms.</p
Acrocyanosis, cramps and joint pains prevalence in <i>SMAD3</i> mutation-carriers and control patients (Cont).
<p>Acrocyanosis, cramps and joint pains prevalence in <i>SMAD3</i> mutation-carriers and control patients (Cont).</p
Schematic illustration of the cellular interference mechanism associated with <i>PCDH19</i> mutations.
<p>A) In normal individuals, characterized by a homogeneous population of <i>PCDH19</i>-positive cells, neurons are able to form normal neuronal networks; B) In mutated male patients, hemizygosity leads to a homogeneous population of <i>PCDH19</i>-negative cells; in this condition, neurons preserve the ability to form normal neuronal networks; C) In heterozygous mutated females, random X inactivation leads to the co-existence of two <i>PCDH19</i>-positive and <i>PCDH19</i>-negative cell populations. These two cell populations cause divergent cell sorting and migration (due to attractive or repulsive interactions) and lead to abnormal neuronal networks. Somatic mosaicism in mutated males gives rise to the same pathological situation. The precise mechanisms by which the neuronal networks are altered are still unknown.</p
Identification of a deletion encompassing <i>PCDH19</i> in a male patient.
<p>A) Identification of a hemizygous Xq22.1 deletion with a 370 K SNP microarray (Illumina): Y-axes represent Log R ratio (above) and B allele frequency (below); the X-axis indicates the position on the X chromosome. The red line (log R ratio profile) corresponds to the median smoothing series (Beadstudio). B) Analysis of the patient and his mother with CGH microarrays (Nimblegen), showing that the deletion occurred de novo. Indicated genomic positions are based upon the Ensembl Genome Browser. Black horizontal bars (below) represent the gene (<i>PCDH19</i>) and pseudogenes comprised in the deleted region.</p
Clinical characteristics of patients with <i>PCDH19</i> mutations.
<p>2*: patient N 06 1258 is the sister of patient N 06 1257 (index case); PMD = psychomotor development, Nl = normal, F = febrile, unit = unilateral, GTC = generalized tonic-clonic, W-S = words-sentences, abs = absent, AED = anti epileptic drugs.</p
Pedigrees of the families and segregation analysis of the <i>PCDH19</i> deletion and point mutations.
<p>del/+, m/+ or v/+ denote individuals heterozygous for the deletion, mutation or variant, respectively; +/+ denotes individuals carrying homozygous wild-type alleles. Squares represent males, circles females; filled black symbols: patients diagnosed as having Dravet syndrome; right black half: Cognitive delay or impairment; left grey half: adolescence-onset idiopathic epilepsy. Dots in the middle of the squares indicate unaffected mutation carriers. The arrows indicate the index cases.</p