Gillespie SyndromeSymptoms, Doctors, Treatments, Advances & More
Gillespie Syndrome Overview
Learn About Gillespie Syndrome
Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
Gillespie syndrome is caused by mutations in the ITPR1 gene. This gene provides instructions for making a protein that is part of a channel that controls the flow of positively charged calcium atoms (calcium ions) within cells. Four ITPR1 protein molecules join together in a complex (a homotetramer) to form the channel.
The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia.
Gillespie syndrome can be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Dominique Gignac-Bremond practices practicing medicine in Paris, France. Gignac-Bremond is rated as an Elite expert by MediFind in the treatment of Gillespie Syndrome. They are also highly rated in 37 other conditions, according to our data. Their clinical expertise encompasses Aniridia, Giant Papillary Conjunctivitis, Vernal Keratoconjunctivitis, Vitrectomy, and Cataract Removal.
Kathleen Williamson practices practicing medicine in Edinburgh, United Kingdom. Ms. Williamson is rated as a Distinguished expert by MediFind in the treatment of Gillespie Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Microphthalmia, Gillespie Syndrome, Aniridia, and Anophthalmia Plus Syndrome.
Meriel Mcentagart practices practicing medicine in London, United Kingdom. Ms. Mcentagart is rated as a Distinguished expert by MediFind in the treatment of Gillespie Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Gillespie Syndrome, Acute Cerebellar Ataxia, Autosomal Cleft Palate, and Oculofaciocardiodental Syndrome.
Published Date: February 01, 2019
Published By: National Institutes of Health