Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
European Journal of Medical Genetics. 2020-08-01; 63(8): 103942
DOI: 10.1016/j.ejmg.2020.103942
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1. Eur J Med Genet. 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.
de Sainte Agathe JM(1), Van-Gils J(2), Lasseaux E(2), Arveiler B(3), Lacombe
D(3), Pfirrmann C(4), Raclet V(2), Gaston L(2), Plaisant C(2), Aupy J(5),
Trimouille A(3).
Author information:
(1)Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic
address: .
(2)Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
(3)Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Université
de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme,
Bordeaux, France.
(4)Service de Chirurgie infantile, CHU de Bordeaux, Bordeaux, France.
(5)Service d’Explorations fonctionnelles du système nerveux, CHU de Bordeaux,
Bordeaux, France.
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.
Copyright © 2020 Elsevier Masson SAS. All rights reserved.
DOI: 10.1016/j.ejmg.2020.103942
PMID: 32439617 [Indexed for MEDLINE]
Conflict of interest statement: Declaration of competing interest There are no
conflicts of interest.