Genetic and developmental anomalies

• XPV
  22 July 2010

  Xeroderma pigmentosum variant (XPV)

• Crigler-Najjar syndrome type 1
  21 July 2010

  Crigler-Najjar syndrome type I

• Marshall syndrome
  15 July 2010

  ORPHA560
  Definition: Marshall syndrome is a multisystem disease characterized by ocular abnormalities, sensorineural hearing loss, craniofacial anomalies and anhidrotic ectodermal dysplasia.
  It has been reported in about 12 families, each of them with at least two affected members.
  Affected individuals have a short stature, brachycephaly, and facial dysmorphia (hypertelorism, epicanthal folds, flat nasal bridge, anteverted nostrils, flat midface, micrognathia, long philtrum, thick lips (...)

• mesomelia-synostoses syndrome
  11 July 2010

  Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations.
  Cytogenetics
  interstitial deletion at 8q13 in all patients
  The deletions vary from 582 Kb to 738 Kb in size, but invariably encompass only two genes: SULF1, encoding the heparan sulfate 6-O-endosulfatase 1, and SLCO5A1, encoding the solute (...)

• genotype imputation
  11 July 2010

  Genome-wide association studies (GWAS) have uncovered a large number of convincingly replicated associations for many complex human diseases.
  Genotype imputation has been used widely in the analysis of GWA studies to boost power, fine-map associations and facilitate the combination of results across studies using meta-analysis.
  References
  Genotype imputation for genome-wide association studies. Marchini J, Howie B. Nat Rev Genet. 2010 Jun 2;11(7):499-511. PMID: (...)

• population stratification
  11 July 2010

  The genome-wide association studies (GWAS) can be confounded by population stratification - systematic ancestry differences between cases and controls - which has previously been addressed by methods that infer genetic ancestry.
  Those methods perform well in data sets in which population structure is the only kind of structure present but are inadequate in data sets that also contain family structure or cryptic relatedness.
  Those methods perform well in data sets in which population (...)

• polygenic diseases
  12 May 2010

  polygenic disease

• F5-associated thrombophilia
  10 March 2010

  Synopsis
  thrombophilia (recurrent venous thromboembolism) (#9010145#)
  idiopathic venous thrombosis (#10507841#) Budd-Chiari syndrome (#10328130#, #9734642#) portal vein thrombosis (#9734642#) mesenteric vein thrombosis (#9734642#)
  retinal arterial occlusion (#9372726#)
  Factor V (F5)
  The F5 gene encodes coagulation factor V, a large 330-kD plasma glycoprotein that circulates with little or no activity. Factor V is converted to the active form, factor Va, by thrombin (F2; (...)

• F5-R506Q-associated thrombophilia
  10 March 2010

  thrombophilia due to factor V Leiden; factor V Leiden-associated thrombophilia

• inbreeding depression
  7 March 2010

  Inbreeding depression is the reduced survival and fertility of offspring of related individuals.
  It occurs in wild animal and plant populations as well as in humans, indicating that genetic variation in fitness traits exists in natural populations.
  Inbreeding depression is important in the evolution of outcrossing mating systems and, because intercrossing inbred strains improves yield (heterosis), which is important in crop breeding, the genetic basis of these effects has been debated (...)

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