| Literature DB >> 32439617 |
Jean-Madeleine de Sainte Agathe1, Julien Van-Gils2, Eulalie Lasseaux2, Benoît Arveiler3, Didier Lacombe3, Clémence Pfirrmann4, Virginie Raclet2, Laetitia Gaston2, Claudio Plaisant2, Jérôme Aupy5, Aurélien Trimouille3.
Abstract
Dyment et al. (2019) recently reported eight novel patients with intellectual disability and epilepsy associated with heterozygous de novo missense variants in TRPM3. We report a novel patient with the same recurrent de novo missense of TRPM3 found in seven of these eight cases, p.(Val837Met), providing an emphasis towards ocular and joints defects along with a non-mandatory epilepsy.Entities:
Keywords: Autosomal dominant; Intellectual disability; KIAA1616; LTRPC3; Recurrent de novo missense; TRPM3
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Year: 2020 PMID： 32439617 DOI： 10.1016/j.ejmg.2020.103942
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708