Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.

IF 0.4 Q4 PEDIATRICS
Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Cham, Simon Ling, Saumya S Jamuar, Ene-Choo Tan
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引用次数: 0

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. It is caused by mutations in the neurofibromin-1 gene ( NF1 ) and affects the formation and growth of nerve tissues. More than 3,600 pathogenic variants in the NF1 gene have been identified from patients with most of the germline variants are from the Western populations. We found 16 patients (15 Chinese and 1 Asian Indian) who had heterozygous variants in NF1 through targeted next-generation sequencing. There were 15 different variants: 4 frameshift, 4 nonsense, 5 missense, and 2 splice variants. One nonsense variant and three frameshift variants had never been reported in any population or patient database. Twelve of the 16 patients met the NF1 diagnostic criteria, and each was found to have a pathogenic or likely pathogenic variant. Three different missense variants of unknown significance were discovered in the other four patients who did not meet NF1 diagnostic criteria. Our findings add four novel variants to the list of genetic mutations linked to NF1's various clinical manifestations.

东南亚16例神经纤维蛋白-1基因变异的新变异及其临床特征
1型神经纤维瘤病(NF1)是最常见的遗传性疾病之一。它是由神经纤维蛋白-1基因(NF1)突变引起的,并影响神经组织的形成和生长。已从患者中鉴定出超过3600种NF1基因的致病变异,其中大多数种系变异来自西方人群。通过靶向下一代测序,我们发现16例患者(15例中国人和1例亚洲印度人)具有NF1杂合变异体。有15个不同的变体:4个移码,4个无义,5个错义和2个拼接变体。一种无义变异和三种移码变异从未在任何人群或患者数据库中报道过。16例患者中有12例符合NF1诊断标准,并且每个患者都被发现有致病性或可能致病性变异。在其他4例不符合NF1诊断标准的患者中发现了三种不同的意义未知的错义变异。我们的发现在与NF1的各种临床表现相关的基因突变列表中增加了四种新的变异。
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来源期刊
自引率
0.00%
发文量
32
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.
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