A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

Abstract

Background

Rahman syndrome (RMNS) is a rare genetic disorder inherited in an autosomal dominant manner caused by a de novo mutation in H1-4 gene. Since there are few cases described in the literature, the prevalence of the syndrome is unknown. RMNS should be suspected in individuals presenting mild to severe intellectual disability associated with behavioural problems.

Case presentation

A novel variant in the H1-4 gene: c.139G > C p.(Ala47Pro), classified as likely pathogenic, was identified in a patient with a phenotype compatible with RMNS. Clubfoot and obesity were described in our patient and should be considered in future reviews of the disease.

Conclusions

This case is added to the reduced number of publications previously reported regarding RMNS and contributes to understanding the genetic characteristics, clinical features and diagnosis of this syndrome.