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FOXG1 Syndrome

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VL

Vicente Lizarraga

Transcript

FOXG1 Syndrome

Brett Farthing

Briana Gomez

Shelbe Santos

Vicente Lizarraga

Causes

  • Autosomal dominant condition, no reported cases
  • All reported cases stem from FOXG1 gene mutations
  • Lack of forkhead box G1 protein production
  • Missing protein hinders embryonic brain development

Gene characterization

  • Cytogenetic Location: 14q13
  • BP 28,767,072 to BP 28,770,277
  • Missense or nonsense mutation in (q) arm of chromosome 14
  • Direct mutation in FOXG1 gene itself
  • Missing transcription repressors cause malformed cerebrum

Mode of Inheritance

Sources

"About FoxG1". International FOXG1 Foundation. International FOXG1 Foundation, 20 February 2016. Web. 22 February 2016

  • Autosomal Dominant
  • All cases reported come from mutation and not by inheritance
  • FOXG1 Syndrome is very severe. Affected individuals are unable to reproduce and have children

"Rett Syndrome." National Organization for Rare Disorders. National Organization for Rare Disorders, 20 February 2016. Web. 22 February 2016.

Autosomal Dominant Pedigree

Population Data

  • Second most common cause of intellectual disability after Down syndrome
  • 184 cases diagnosed in the world currently
  • Occurs almost exclusively in girls
  • in the United states, it is estimated to affect 1 in 10,000 girls by age 12.

Faces of FOXG1

  • These two have the syndrome
  • Not physically noticeable in some.
  • some infants will have a small head compared to normal growth

Treatment

  • No cure for FOXG1

  • Some methods for controlling symptoms of FOXG1:
  • Physical therapy

  • Swim therapy

  • Hippotherapy

  • Speech therapy

  • Medications include anticonvulsants

Clinical characteristics

  • Seizures
  • Intellectual disabilities
  • absence of speech and language skills
  • Impaired development
  • Structural brain abnormalities
  • head grows more slowly then normal
  • Sleep distrubances
  • feeding problems

Diagnosis

  • Seizures begin as an infant
  • Genetic disorder
  • Deletion of genetic material
  • causes problems in brain development
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