Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i> -Related Neurodevelopmental Disorder
Jennifer Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle, Xiao Fan, Orrin Devinsky, Richard E. Frye, Silke Hamp, Cynthia Keator, Nicole LaMarca, Alexis Maddocks, Marcos Madruga-Garrido, Karen Y. Niederhoffer, Francesca Novara, Angela Peron, Elizabeth Poole-Di Salvo, Rachel Salazar, Steven A. Skinner, Gabriela Soares, Sylvie Goldman, Wendy K. Chung
Abstract
OBJECTIVE: -related neurodevelopmental disorder in 33 individuals. METHODS: using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures. RESULTS: -related disorders to include 33 individuals, aged 2-38 years, both females and males, with 11 different de novo missense variants, most within the nuclear localization signal. The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment. Although rare, we report early stroke and premature death with this condition. CONCLUSIONS: -related disorders continues to expand as the allelic spectrum and identification of affected males increases.