A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome

Abstract

Introduction

Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formin 2 gene). Case report: A boy with intellectual disability had a novel homozygous nonsense mutation (c.2245C > T/p.Gln749*) leading to a premature stop codon in exon 6 of the FMN2 (NM_001305424) gene detected by Clinical Exome Sequencing (CES). Conclusion: Clinical features of a patient with a novel nonsense FMN2 mutation is presented. We urge the change in the OMIM nomenclature from Mental Retardation, Autosomal Recessive 47 (MRT47, MIM 616193) to ‘Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome’.

Keywords:

• FMN2
• ID
• CES
• novel mutation

Acknowledgements

We thank the parents of our patient for consenting to the publication of this patient.

Conflicts of interest

The authors disclose no conflicts.

Statement of ethics

Molecular genetic studies of the patient were performed in the Medical Genetics Department of Bursa Yüksek Ihtisas Training and Research Hospital with the written consent of the parents of the patient. Informed consent was also obtained from parents of the patient for the publication.

Disclosure statement

The authors have no financial relationships relevant to this article to disclose.

Funding

No funding was secured for this study.