A Case Report of Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Abstract

Hiatt-Neu-Cooper neurodevelopmental syndrome(HINCONS), a rare neurodevelopmental disorder closely associated with a heterozygous mutation in the RALA gene on 7p14, is characterized by prominent intellectual disability or global developmental delay. Currently, no effective treatment options are available for this disease. This article reports a case of HINCONS presenting with global developmental delay, particularly in language and motor development, along with decreased muscle tone, short stature, distinctive facial features, and congenital ventricular septal defect. No significant abnormalities were found in laboratory biochemical tests. Head MRI revealed enlarged ventricles and increased space in the subarachnoid and convexity regions. Trio-based whole exome sequencing testing identified a novel variant RALA gene c.475(exon4)A > G(p.K159E) in the affected child. In this study, we performed a retrospective analysis of the clinical features of 12 reported cases of HINCONS from the literature, with the aim of providing a reference for the clinical diagnosis and genetic counseling of HINCONS.

Keywords

• hiatt-neu-cooper neurodevelopmental syndrome
• rala gene
• global developmental delay
• trio-based whole-exome sequencing