一个智力残疾、顽固性癫痫和运动障碍的男孩的复杂神经表型与新生DHDDS突变相关。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2021-09-01 Epub Date: 2020-07-31 DOI:10.1055/s-0040-1713159
Gianluca Piccolo, Elisabetta Amadori, Maria Stella Vari, Francesca Marchese, Antonella Riva, Valentina Ghirotto, Michele Iacomino, Vincenzo Salpietro, Federico Zara, Pasquale Striano
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引用次数: 7

摘要

编码脱氢多酚二磷酸合成酶复合物亚基的DHDDS基因(MIM: 617836)的突变最近被认为与非常罕见的神经发育疾病有关。到目前为止,总共报道了5例携带两种新生DHDDS突变的个体,但基因型-表型相关性仍然难以捉摸。我们报道了一名男孩的DHDDS从头突变(NM_205861.3: c.G632A;p.a g211gln)具有复杂的神经表型,包括轻度智力残疾,言语障碍,复杂的多动运动和难治性癫痫。我们定义了与DHDDS相关的神经发育疾病的单等位基因形式相关的电临床和运动障碍表型以及可能潜在的显性-阴性机制。
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Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder.

Mutations in the DHDDS 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 de novo mutations in DHDDS have been reported so far, but genotype-phenotype correlations remain elusive. We reported a boy with a de novo mutation in DHDDS (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 DHDDS -related neurodevelopmental disease and possible underlying dominant-negative mechanisms.

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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
期刊最新文献
Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1. Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder. Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias. A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism. Contributing Reviewers in 2023.
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