Genetic and developmental anomalies

• somatic variations
  12 October 2013

  News
  DNA Double Take. http://www.nytimes.com/2013/09/17/science/dna-double-take.html?_r=0

• urofacial syndrome
  11 January 2013

  Ochoa syndrome
  Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying.
  Etiology
  LRIG2 Mutations Cause Urofacial Syndrome. (doi:10.1016/j.ajhg.2012.12.002 ) Rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. UFS is also caused by mutations in HPSE2, encoding (...)

• attenuated familial adenomatous polyposis
  1 December 2012

  "attenuated FAP" (attenuated familial adenomatous polyposis); AFAP phenotype
  The concept that AFAP is invariably characterized by less than 100 adenomas has been disputed following the use of dye-spray during colonoscopy.
  Four subjects had a family history consistent with FAP but had less than 20 adenomas on standard colonoscopy.
  In each of the subjects, the use of dye-spray highlighted over 1000 adenomas. These were sufficiently large to be recognized and counted within the subsequent (...)

• RAS pathway-associated diseases
  28 March 2012

  RAS signaling pathway diseases
  Noonan syndrome (NS), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and LEOPARD syndrome (now also referred to as Noonan syndrome with multiple lentigines or NSML) are clinically overlapping dominant disorders that are caused by mutations in RAS signaling pathway genes.
  The spectrum of cancer susceptibility:
  neuroblastoma
  acute lymphoblastic leukemia
  low grade glioma
  embryonal rhabdomyosarcoma
  myeloproliferative disease
  bladder (...)

• lymphedema, microcephaly, chorioretinopathy syndrome
  7 February 2012

  MLCRD syndrome
  Etiology
  KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy.
  Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort.
  Subsequent Sanger sequencing of KIF11 in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy (...)

• generalized peeling skin syndrome
  6 February 2012

  GPSS

• diaphanospondylodysostosis
  30 December 2011

  DSD
  Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder.
  The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue.
  Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears.
  The most commonly described extraskeletal finding is nephroblastomatosis (...)

• Myhre syndrome
  30 December 2011

  Definition: Myhre syndrome (MIM.139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.
  Clinical synopsis
  Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac (...)

• electrical patterning
  30 December 2011

  Links
  Tufts News
  References
  Transmembrane voltage potential controls embryonic eye patterning in Xenopus laevis. Pai VP, Aw S, Shomrat T, Lemire JM, Levin M. Development. 2012 Jan;139(2):313-23. PMID: # 22159581#

• Brooke-Spiegler syndrome
  5 December 2011

  BRSS

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