Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-29 DOI:10.1055/s-0040-1709695

Maria Gogou, Evangelos Pavlou, Vasilios Kimiskidis, Konstantinos Kouskouras, Efterpi Pavlidou, Theophanis Papadopoulos, Katerina Haidopoulou, Liana Fidani

引用次数: 0

Abstract

Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous known pathogenic mutation. Symptoms began at 15 months and by 14 years, he presented significant motor impairment. Both parents exhibited one of the mutations in the heterozygous state, while his 8-year-old brother carried the same compound heterozygosity, showing only a mild phenotype. In our case, we discussed the contribution of compound heterozygosity to intrafamilial variability in Charcot-Marie-Tooth and the role of modifying genes.

查看原文本刊更多论文

与Charcot-Marie-Tooth 4C和家族内变异有关的新突变:不要只见树木不见森林。

Charcot-Marie-Tooth 4C的特点是发病早、进展快，主要与SH3TC2基因突变有关。我们报道了一名男性患者携带SH3TC2基因的一种新的杂合无义突变以及一种已知的杂合致病突变。15个月时开始出现症状，14岁时出现明显的运动障碍。父母双方都表现出杂合状态的一种突变，而他8岁的弟弟携带相同的复合杂合性，只表现出轻微的表型。在我们的案例中，我们讨论了复合杂合性对charco - marie - tooth家族内变异性的贡献以及修饰基因的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of pediatric genetics PEDIATRICS-

自引率

0.00%

发文量

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.