Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. Issue 1 (31st October 2019)

• Record Type: Journal Article
• Authors: Somashekar, Puneeth H.; Narayanan, Dhanya L.; Jagadeesh, Sujatha; Suresh, Beena; Vaishnavi, Reddy D.; Bielas, Stephanie; Girisha, Katta M.; Shukla, Anju
• Is Part Of: American journal of medical genetics. Volume 182:Issue 1(2020)
• Page Start: 183
• Page End: 188
• Publication Date: 2019-10-31
• Subjects: developmental delay -- heterogeneous nuclear ribonucleoproteins -- HNRNPH2 -- hypotonia -- intellectual disability -- X‐linked dominant; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61388
• Languages: English
• ISSNs: 1552-4825

Abstract

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.