Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2 |
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| Authors: | Puneeth H. Somashekar Dhanya L. Narayanan Sujatha Jagadeesh Beena Suresh Reddy D. Vaishnavi Stephanie Bielas Katta M. Girisha Anju Shukla |
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| Affiliation: | 1. Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India;2. Department of Genetics, Mediscan Systems, Chennai, India;3. Department of Human Genetics, University of Michigan, Ann Arbor, Michigan;4. https://orcid.org/0000-0003-2471-4094;5. Dr Anju Shukla, Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India. |
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| Abstract: | Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. A gain‐of‐function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. We describe a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2, possibly due to maternal germline mosaicism. |
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| Keywords: | developmental delay heterogeneous nuclear ribonucleoproteins HNRNPH2 hypotonia intellectual disability X‐linked dominant |
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