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Gillespie syndrome

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Gillespie syndrome

Gillespie syndrome
Classification and external resources
OMIM 206700
DiseasesDB 32735

Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency and Gillespie's syndrome II,[1][2] is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner.[3] Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.[2]

Genetics

Gillespie syndrome is a heterogeneous disorder, and can be inherited in either an autosomal dominant or recessive manner.[3] Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Autosomal recessive inheritance means the defective gene responsible for the disorder is located on an autosome, but two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Some forms are associated with PAX6.[4][5]

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 206700
  2. ^ a b synd/2006 at Who Named It?
  3. ^ a b Defreyn A, Maugery J, Chabrier S, Coullet J (January 2007). "Gillespie syndrome: an uncommon presentation of congenital aniridia" (Free full text). J Fr Ophthalmol. (in French) 30 (1): e1.  
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 206700
  5. ^ Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D: Ocular findings in Gillespie-like syndrome: Association with a new PAX6 mutation. Oph Genetics 2006:27;145-149.

External links

  • Gillespie syndrome in the Swedish Rare Disease Database


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