What causes Gillespie syndrome?

What causes Gillespie syndrome?

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.

Can hypotonia affect eyes?

Aside form hypotonia, features of Down’s Syndrome include a short neck, excess skin folds on back of neck, eyes that slant upwards, a small head and flat nose and facial profile. Intelligence level is also affected and there is an increased risk of a congenital heart defect and problems with vision and hearing.

What are the extraocular features of Gillespie syndrome?

The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016 ).

How old was the girl with Gillespie syndrome?

Luquetti et al. (2007) described an 8-year-old Brazilian girl, born of first-cousin parents, who had bilateral aniridia, hypotonia, ataxia, and mild mental retardation.

Who is Ronald Gillespie and what does he do?

Ronald James Gillespie, CM FRSC (born August 21, 1924 in London), a chemistry professor at McMaster University, specializes in the field of Molecular Geometry in Chemistry. In 2007 he was awarded the Order of Canada. He was educated at the University of London obtaining a B.Sc in 1945, a Ph.D in 1949 and a D.Sc in 1957.

Is the lens and cornea of Gillespie syndrome clear?

Noteworthy is the observation that the lens and cornea of Gillespie syndrome are clear, whereas congenital cataract and corneal opacities are relatively common among autosomal dominant aniridia patients ( 106210 ). Lechtenberg and Ferreti (1981) reported a single case in an 18-month-old girl.