RT Journal Article
T1 Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
A1 Bain, Jennifer M
A1 Thornburg, Olivia
A1 Pan, Cheryl
A1 Rome-Martin, Donnielle
A1 Boyle, Lia
A1 Fan, Xiao
A1 Devinsky, Orrin
A1 Frye, Richard
A1 Hamp, Silke
A1 Keator, Cynthia G
A1 LaMarca, Nicole M
A1 Maddocks, Alexis B R
A1 Madruga-Garrido, Marcos
A1 Niederhoffer, Karen Y
A1 Novara, Francesca
A1 Peron, Angela
A1 Poole-Di Salvo, Elizabeth
A1 Salazar, Rachel
A1 Skinner, Steven A
A1 Soares, Gabriela
A1 Goldman, Sylvie
A1 Chung, Wendy K
AB To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals. Participants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 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. We expand our clinical characterization of HNRNPH2-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. The spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.
SN 2376-7839
YR 2021
FD 2021-01-29
LK https://hdl.handle.net/10668/27337
UL https://hdl.handle.net/10668/27337
LA en
DS RISalud
RD Apr 12, 2025