Literature DB >> 3189393

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.

E O Wittig1, C A Moreira, N Freire-Maia, A M Vianna-Morgante.   

Abstract

We report on two brothers (in a sibship of three) with partial aniridia, cerebellar ataxia, and moderate mental retardation, with normal G-banded chromosomes. Both present cerebellum hypoplasia; the younger also has congenital pulmonic stenosis. A review of the literature is presented. Cause is unknown, although the possibility of an autosomal recessive gene cannot be ruled out.

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Mesh：

Year:  1988        PMID： 3189393     DOI： 10.1002/ajmg.1320300302

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Gillespie syndrome reported as bilateral congenital mydriasis.

Authors:  O Quarrell
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

2.  Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Authors:  Sylvie Gerber; Kamil J Alzayady; Lydie Burglen; Dominique Brémond-Gignac; Valentina Marchesin; Olivier Roche; Marlène Rio; Benoit Funalot; Raphaël Calmon; Alexandra Durr; Vera Lucia Gil-da-Silva-Lopes; Maria Fernanda Ribeiro Bittar; Christophe Orssaud; Bénédicte Héron; Edward Ayoub; Patrick Berquin; Nadia Bahi-Buisson; Christine Bole; Cécile Masson; Arnold Munnich; Matias Simons; Marion Delous; Helene Dollfus; Nathalie Boddaert; Stanislas Lyonnet; Josseline Kaplan; Patrick Calvas; David I Yule; Jean-Michel Rozet; Lucas Fares Taie
Journal:  Am J Hum Genet       Date:  2016-04-21       Impact factor: 11.025

Review 3.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

4.  Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Authors:  Maria Lisa Dentici; Sabina Barresi; Marta Nardella; Emanuele Bellacchio; Paolo Alfieri; Alessandro Bruselles; Francesca Pantaleoni; Alberto Danieli; Giancarlo Iarossi; Marco Cappa; Enrico Bertini; Marco Tartaglia; Ginevra Zanni
Journal:  Gene       Date:  2017-07-08       Impact factor: 3.688

5.  Esophageal dysmotility in gillespie syndrome.

Authors:  Bruna Dell'acqua Cassão; Daniel Tavares de Rezende; Luciana C Silva; Fernando A M Herbella
Journal:  J Neurogastroenterol Motil       Date:  2013-10-07       Impact factor: 4.924

6.  Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Authors:  Morad Ansari; Jacqueline Rainger; Isabel M Hanson; Kathleen A Williamson; Freddie Sharkey; Louise Harewood; Angela Sandilands; Jill Clayton-Smith; Helene Dollfus; Pierre Bitoun; Francoise Meire; Judy Fantes; Brunella Franco; Birgit Lorenz; David S Taylor; Fiona Stewart; Colin E Willoughby; Meriel McEntagart; Peng Tee Khaw; Carol Clericuzio; Lionel Van Maldergem; Denise Williams; Ruth Newbury-Ecob; Elias I Traboulsi; Eduardo D Silva; Mukhlis M Madlom; David R Goudie; Brian W Fleck; Dagmar Wieczorek; Juergen Kohlhase; Alice D McTrusty; Carol Gardiner; Christopher Yale; Anthony T Moore; Isabelle Russell-Eggitt; Lily Islam; Melissa Lees; Philip L Beales; Stephen J Tuft; Juan B Solano; Miranda Splitt; Jens Michael Hertz; Trine E Prescott; Deborah J Shears; Ken K Nischal; Martine Doco-Fenzy; Fabienne Prieur; I Karen Temple; Katherine L Lachlan; Giuseppe Damante; Danny A Morrison; Veronica van Heyningen; David R FitzPatrick
Journal:  PLoS One       Date:  2016-04-28       Impact factor: 3.240

Review 7.  Roles for the Endoplasmic Reticulum in Regulation of Neuronal Calcium Homeostasis.

Authors:  Nicholas E Karagas; Kartik Venkatachalam
Journal:  Cells       Date:  2019-10-10       Impact factor: 6.600
  7 in total

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