与TRPM3基因中反复出现的p.Val837Met变异相关的表型的确证与扩展
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
作者信息
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
机构信息
Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
出版信息
Eur J Med Genet. 2020 Aug;63(8):103942. doi: 10.1016/j.ejmg.2020.103942. Epub 2020 May 18.
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.
戴门特等人（2019年）最近报告了8例患有智力障碍和癫痫的新病例，这些病例与TRPM3基因的杂合性新生错义变异有关。我们报告了1例新病例，其具有在这8例中的7例中发现的相同的TRPM3基因复发性新生错义变异，即p.(Val837Met)，该病例除了非强制性癫痫外，还存在眼部和关节缺陷。
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