Síndrome de Gillespie (Gillespie Syndrome)

A tríade de aniridia, ataxia congênita e deficiência intelectual caracteriza a síndrome de Gillespie, uma doença recessiva ou dominante causada por mutações no gene ITPR1. A ausência de parte ou de toda a íris é chamada de aniridia.

■ Aniridia as a clue for the diagnosis of Gillespie syndrome.

Rezende Filho, Flávio Moura et al

Arq. Neuro-Psiquiatr., June 2020, vol.78, no.6, p.383-383

https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000600383&lng=pt&nrm=iso

■ The genetic architecture of aniridia and Gillespie syndrome

Hildegard Nikki Hall, Kathleen A. Williamson, David R. FitzPatrick

Hum Genet. 2019; 138(8): 881–898

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710220/

■ Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri et al

BMC Pediatr. 2018; 18: 308

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154888/

■ The genetic of aniridia – simple things becomme complicated

Anna Wawrocka, Maciej R. Krawczynski

J Appl Genet. 2018; 59(2): 151–159

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895662/

■ Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromme

Maria Lisa Dentici, Sabina Barresi, Marta Nardella, et al

Gene. 2017 Sep 10; 628: 141–145

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352/

■ A restricte repertoire de De Novo mutationns in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect