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Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
Author(s) -
Somashekar Puneeth H.,
Narayanan Dhanya L.,
Jagadeesh Sujatha,
Suresh Beena,
Vaishnavi Reddy D.,
Bielas Stephanie,
Girisha Katta M.,
Shukla Anju
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61388
Subject(s) - hypotonia , genetics , biology , intellectual disability , missense mutation , gene , germline , heterogeneous ribonucleoprotein particle , rna binding protein , rna , mutation
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.