Piccolo Gianluca, Amadori Elisabetta, Vari Maria Stella, Marchese Francesca, Riva Antonella, Ghirotto Valentina, Iacomino Michele, Salpietro Vincenzo, Zara Federico, Striano Pasquale
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
J Pediatr Genet. 2021 Sep;10(3):236-238. doi: 10.1055/s-0040-1713159. Epub 2020 Jul 31.
Mutations in the gene (MIM: 617836), encoding a subunit of dehydrodolichyl diphosphate synthase complex, have been recently implicated in very rare neurodevelopmental diseases. In total, five individuals carrying two mutations in have been reported so far, but genotype-phenotype correlations remain elusive. We reported a boy with a mutation in (NM_205861.3: c.G632A; p.Arg211Gln) featuring a complex neurological phenotype, including mild intellectual disability, impaired speech, complex hyperkinetic movements, and refractory epilepsy. We defined the electroclinical and movement disorder phenotype associated with the monoallelic form of the -related neurodevelopmental disease and possible underlying dominant-negative mechanisms.
编码脱氢多萜醇二磷酸合酶复合物一个亚基的基因（MIM: 617836）中的突变，最近被认为与非常罕见的神经发育疾病有关。迄今为止，总共已报告了5名携带该基因两个突变的个体，但基因型与表型的相关性仍不清楚。我们报告了一名患有该基因突变（NM_205861.3: c.G632A；p.Arg211Gln）的男孩，其具有复杂的神经学表型，包括轻度智力障碍、言语障碍、复杂的多动症状和难治性癫痫。我们定义了与该基因相关神经发育疾病单等位基因形式相关的电临床和运动障碍表型以及可能的潜在显性负性机制。
