{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T11:50:06Z","timestamp":1773057006105,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T00:00:00Z","timestamp":1714953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The association of early\u2010onset non\u2010progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has benefited from a genetic diagnosis by the identification of a missense heterozygous variant (p.Arg36Cys) in the <jats:italic>ITPR1<\/jats:italic> gene. This gene encodes the inositol 1,4,5\u2010trisphosphate receptor type 1, an intracellular channel that mediates calcium release from the endoplasmic reticulum. Deleterious variants in this gene are known to be associated with two types of spinocerebellar ataxia, SCA15 and SCA29, and with Gillespie syndrome that is associated with ataxia, partial iris hypoplasia, and intellectual disability. In this work, we describe a novel individual carrying a heterozygous missense variant (p.Arg36Pro) at the same position in the N\u2010terminal suppressor domain of <jats:italic>ITPR1<\/jats:italic> as the family previously reported, with the same phenotype associating early\u2010onset non\u2010progressive ataxia and miosis. This second report confirms the implication of <jats:italic>ITPR1<\/jats:italic> in the miosis\u2013ataxia syndrome and therefore broadens the clinical spectrum of the gene. Moreover, the high specificity of the phenotype makes it a recognizable syndrome of genetic origin.<\/jats:p>","DOI":"10.1002\/ajmg.a.63655","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T04:58:49Z","timestamp":1715057929000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>ITPR1<\/i>: The missing gene in miosis\u2013ataxia syndrome?"],"prefix":"10.1002","volume":"194","author":[{"given":"Bertrand","family":"Chesneau","sequence":"first","affiliation":[{"name":"Laboratoire de R\u00e9f\u00e9rence (LBMR) des anomalies malformatives de l'\u0153il Institut F\u00e9d\u00e9ratif de Biologie (IFB), CHU Toulouse  Toulouse France"},{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique CARGO, site constitutif, CHU Toulouse  Toulouse France"},{"name":"Molecular, Cellular and Developmental Biology Unit (MCD) Centre de Biologie Int\u00e9grative (CBI), Universit\u00e9 de Toulouse, CNRS, UPS  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Calvas","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique CARGO, site constitutif, CHU Toulouse  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Cassagne","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie H\u00f4pital Purpan  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Varenne","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique CARGO, site constitutif, CHU Toulouse  Toulouse France"},{"name":"Service d'Ophtalmologie H\u00f4pital Purpan  Toulouse 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France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Fourni\u00e9","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie H\u00f4pital Purpan  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas","family":"Fares\u2010Taie","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Ophtalmologique INSERM U1163, Institut Imagine  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Plaisanci\u00e9","sequence":"additional","affiliation":[{"name":"Laboratoire de R\u00e9f\u00e9rence (LBMR) des anomalies malformatives de l'\u0153il Institut F\u00e9d\u00e9ratif de Biologie (IFB), CHU Toulouse  Toulouse France"},{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique CARGO, site constitutif, CHU Toulouse  Toulouse France"},{"name":"Molecular, Cellular and Developmental Biology Unit (MCD) Centre de 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