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Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

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.

SUBMITTER: Somashekar PH

PROVIDER: S-EPMC10052778 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

Somashekar Puneeth H PH Narayanan Dhanya L DL Jagadeesh Sujatha S Suresh Beena B Vaishnavi Reddy D RD Bielas Stephanie S Girisha Katta M KM Shukla Anju A

American journal of medical genetics. Part A 20191031 1

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 ...[more]

PMID: 31670473

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Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.

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CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

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Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.

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