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Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
European Journal of Medical Genetics ( IF 1.9 ) Pub Date : 2020-05-18 , DOI: 10.1016/j.ejmg.2020.103951
W Smaili 1 , S Chafai Elalaoui 2 , A Zrhidri 2 , L Raymond 3 , G Egéa 3 , M Taoudi 3 , S E L Mouatassim 3 , A Sefiani 2 , J Lyahyai 1
Affiliation  

Background

Genetic factors represent a considerable part of the etiologies of intellectual disability; however, the identification of causal genetic anomaly has long been complicated by the great clinical and genetic heterogeneity of this type of disease. With advances in next-generation sequencing technologies and functional studies, the identification of genes involved in intellectual development has led to more accurate diagnostics and better understanding of the underlying biological pathways.

Case report

We report on the case of two Moroccan siblings presenting mild intellectual disability with minimal dysmorphic features in which whole exome sequencing analysis revealed homozygous mutation in the METTL23 gene. Mutations in this gene have been reported to cause autosomal recessive mild intellectual disability but the association with dysmorphic features remains controversial.

Conclusion

Hereby, we highlight the similarity of the dysmorphic traits and the characteristic facial features in patients with METTL23-related intellectual disability, suggesting the consideration of a distinct clinical entity associating mild intellectual deficiency with specific facial dysmorphy for an efficient diagnosis orientation and a better phenotype-genotype correlation in intellectual disability disorders.



中文翻译:

外显子组测序揭示了一种新的纯合的METTL23基因突变,导致具有轻度畸形特征的家族性轻度智力残疾。

背景

遗传因素占智力障碍病因的很大一部分;然而,长期以来,由于这种疾病的巨大临床和遗传异质性,导致因果遗传异常的鉴定一直很复杂。随着下一代测序技术和功能研究的发展,与智力开发有关的基因的鉴定已导致更准确的诊断和对基本生物学途径的更好理解。

案例报告

我们报告了两个摩洛哥兄弟姐妹的病例,这些兄弟姐妹表现出轻度智力障碍,具有最小的畸形特征,其中整个外显子组测序分析显示METTL23基因纯合突变。据报道该基因的突变会引起常染色体隐性遗传的轻度智力残疾,但与畸形特征的关联仍存在争议。

结论

因此,我们强调了METTL2 3相关智力障碍患者的畸形特征和特征性面部特征的相似性,建议考虑将轻度智力缺陷与特定面部畸形相关联的独特临床实体,以实现有效的诊断方向和更好的表型智障碍中的基因型相关性。

更新日期:2020-05-18
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