Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features

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 technologie...

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Bibliographic Details
Published in:	European journal of medical genetics 2020-07, Vol.63 (7), p.103951-103951, Article 103951
Main Authors:	Smaili, W., Elalaoui, S. Chafai, Zrhidri, A., Raymond, L., Egéa, G., Taoudi, M., Mouatassim, S.E.L., Sefiani, A., Lyahyai, J.
Format:	Article
Language:	eng
Subjects:	Body Dysmorphic Disorders - diagnostic imaging Body Dysmorphic Disorders - genetics Child Dysmorphic features Exome - genetics Exome sequencing Female Genetic Association Studies Genetic Heterogeneity Genetic Predisposition to Disease - genetics Genotype High-Throughput Nucleotide Sequencing Homozygote Humans Intellectual disability Intellectual Disability - diagnostic imaging Intellectual Disability - genetics Intellectual Disability - physiopathology Male Methyltransferases - genetics METTL23 Moroccan family Morocco Mutation Pedigree Whole Exome Sequencing
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Summary:	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. 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. 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.
ISSN:	1769-7212 1878-0849