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The genetic architecture of aniridia and Gillespie syndrome.
Hall HN, Williamson KA, FitzPatrick DR. Hall HN, et al. Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Hum Genet. 2019. PMID: 30242502 Free PMC article. Review.
Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome-a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability-is phenotypically and genotypically distinct from classical aniridia. The ca …
Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome-a triad of partial aniridia …
Aniridia as a clue for the diagnosis of Gillespie syndrome.
Rezende Filho FM, Pedroso JL, Freitas JL, Teixeira LF, Barsottini OGP. Rezende Filho FM, et al. Arq Neuropsiquiatr. 2020 Jun;78(6):383. doi: 10.1590/0004-282X20200013. Arq Neuropsiquiatr. 2020. PMID: 32609195 Free article. No abstract available.
Pathophysiological consequences of isoform-specific IP3 receptor mutations.
Kerkhofs M, Seitaj B, Ivanova H, Monaco G, Bultynck G, Parys JB. Kerkhofs M, et al. Biochim Biophys Acta Mol Cell Res. 2018 Nov;1865(11 Pt B):1707-1717. doi: 10.1016/j.bbamcr.2018.06.004. Epub 2018 Jun 12. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29906486 Free article. Review.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. ...
Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and …
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M. Blanco-Kelly F, et al. Arch Soc Esp Oftalmol (Engl Ed). 2021 Nov;96 Suppl 1:4-14. doi: 10.1016/j.oftale.2021.02.002. Epub 2021 Oct 22. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34836588 Review.
Some patients with atypical phenotypes might present mutations in FOXC1 and PITX2, both genes causing a wide spectrum of anterior segment dysgenesis, or in ITPR1, which is responsible for a distinctive form of circumpupillary iris aplasia present in Gillespie syndrome …
Some patients with atypical phenotypes might present mutations in FOXC1 and PITX2, both genes causing a wide spectrum of anterior segment dy …
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Gerber S, et al. Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108797 Free PMC article.
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. ...In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic de …
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual di …
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.
Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). ...Plausibly causative mutations were identified in 15 out of 42 indiv …
Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome …
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.
De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H. De Silva D, et al. BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5. BMC Pediatr. 2018. PMID: 30249237 Free PMC article.
BACKGROUND: Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. ...CONCLUSION: The report of this child with molecular confirma …
BACKGROUND: Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilate …
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F. Romaniello R, et al. Int J Mol Sci. 2022 Jun 16;23(12):6723. doi: 10.3390/ijms23126723. Int J Mol Sci. 2022. PMID: 35743164 Free PMC article.
Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome. Cerebellar atrophy/hypoplasia is invariably detected, but a recognizable neurora …
Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), …
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.
Verhulst S, Smet H, Ceulemans B, Geerts Y, Tassignon MJ. Verhulst S, et al. Bull Soc Belge Ophtalmol. 1993;250:37-42. Bull Soc Belge Ophtalmol. 1993. PMID: 7952360 Review.
Two new cases of Gillespie syndrome in a mother and daughter are presented. This syndrome is characterised by partial aniridia, cerebellar ataxia and mental retardation....
Two new cases of Gillespie syndrome in a mother and daughter are presented. This syndrome is characterised by partial aniridia …
33 results