Condition: Gillespie syndrome


rs1553654413 in ITPR1 gene and Gillespie syndrome PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

PMID 29169895 2018 Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

PMID 29925855 2018 De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

PMID 27108797 2016 Using a combination of trio-based whole-exome sequencing and Sanger sequencing in five simplex GS-affected families, we found homozygous or compound heterozygous truncating mutations (c.4672C>T [p.Gln1558(∗)], c.2182C>T [p.Arg728(∗)], c.6366+3A>T [p.Gly2102Valfs5(∗)], and c.6664+5G>T [p.Ala2221Valfs23(∗)]) and de novo heterozygous mutations (c.7687_7689del [p.Lys2563del] and c.7659T>G [p.Phe2553Leu]) in the inositol 1,4,5-trisphosphate receptor type 1 gene (ITPR1).

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.