Publications
European journal of medical geneticsAug 2020 |
63
(
8
),
103942
DOI:
10.1016/j.ejmg.2020.103942

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

de Sainte Agathe, Jean-Madeleine; Van-Gils, Julien; Lasseaux, Eulalie; Arveiler, Benoît; Lacombe, Didier; Pfirrmann, Clémence; Raclet, Virginie; Gaston, Laetitia; Plaisant, Claudio; Aupy, Jérôme; Trimouille, Aurélien
Product Used
NGS
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.
Product Used
NGS

Related Publications