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Case Reports
. 2020 Aug;63(8):103942.
doi: 10.1016/j.ejmg.2020.103942. Epub 2020 May 18.

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Jean-Madeleine de Sainte Agathe  1 , Julien Van-Gils  2 , Eulalie Lasseaux  2 , Benoît Arveiler  3 , Didier Lacombe  3 , Clémence Pfirrmann  4 , Virginie Raclet  2 , Laetitia Gaston  2 , Claudio Plaisant  2 , Jérôme Aupy  5 , Aurélien Trimouille  3
Affiliations
Case Reports

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Jean-Madeleine de Sainte Agathe et al. Eur J Med Genet. 2020 Aug.

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.

Keywords: Autosomal dominant; Intellectual disability; KIAA1616; LTRPC3; Recurrent de novo missense; TRPM3.

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Declaration of competing interest There are no conflicts of interest.

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