Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Clin Genet. 2018 Jun 25;:
Authors: Pilch J, Koppolu AA, Walczak A, Pienkowski VAM, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R
The HNRNPH2-associated disease (Mental retardation, X-linked, syndromic, Bain type (MRXSB, MIM#300986) is caused by de novo mutations in the X-linked HNRNPH2 gene. MRXSB has been described in 6 female patients with dysmorphy, developmental delay, intellectual disability, autism, hypotonia and seizures. The reported HNRNPH2 mutations were clustered in the small domain encoding nuclear localization signal; in particular, the p.Arg206Trp was found in 4 independent de novo events. HNRNPH1 is a conserved autosomal paralogue of HNRNPH2 with a similar function in regulation of pre-mRNAs splicing but so far it has not been associated with human disease. We describe a boy with a disease similar to MRXSB in whom a novel de novo mutation c.616C>T (p.Arg206Trp) in HNRNPH1 was found (i.e. the exact paralogue of the recurrent HNRNPH2 mutation). We propose that defective function of HNRNPH2 and HNRNPH1 nuclear localization signal has similar clinical consequences. An important difference between the two diseases is that the HNRNPH1 associated syndrome may occur in boys (as in the case of our proband) which is well explained by the autosomal (chr.5q35.3) rather than X-linked localization of the HNRNPH2 gene. This article is protected by copyright. All rights reserved.
PMID: 29938792 [PubMed – as supplied by publisher]