Dataset Information

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.

ABSTRACT:

Objective

To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals.

Methods

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.

Results

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.

Conclusions

The spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.

SUBMITTER: Bain JM

PROVIDER: S-EPMC7954461 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Publications

Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental Disorder.

Bain Jennifer M JM Thornburg Olivia O Pan Cheryl C Rome-Martin Donnielle D Boyle Lia L Fan Xiao X Devinsky Orrin O Frye Richard R Hamp Silke S Keator Cynthia G CG LaMarca Nicole M NM Maddocks Alexis B R ABR Madruga-Garrido Marcos M Niederhoffer Karen Y KY Novara Francesca F Peron Angela A Poole-Di Salvo Elizabeth E Salazar Rachel R Skinner Steven A SA Soares Gabriela G Goldman Sylvie S Chung Wendy K WK

Neurology. Genetics 20210129 1

<h4>Objective</h4>To expand the clinical phenotype of the X-linked <i>HNRNPH2</i>-related neurodevelopmental disorder in 33 individuals.<h4>Methods</h4>Participants were diagnosed with pathogenic or likely pathogenic variants in <i>HNRNPH2</i> 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 r ...[more]

PMID: 33728377

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