HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

doi:10.1111/cge.13765

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Article

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Clinical genetics - 1 Jul 2020

Reichert Sara C, Li Rachel, A Turner Scott, van Jaarsveld Richard H, Massink Maarten P G, van den Boogaard Marie-José H, Del Toro Mireia, Rodríguez-Palmero Agustí, Fourcade Stéphane, Schlüter Agatha, Planas-Serra Laura, Pujol Aurora, Iascone Maria, Maitz Silvia, Loong Lucy, Stewart Helen, De Franco Elisa, Ellard Sian, Frank Julie, Lewandowski Raymond

Abstract excerpt

Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2-related X-linked intellectual disability, Bain type (MRXSB), specifically intellectual disability and dysmorphic features. While HNRNPH1 variants were initially proposed to represent an...

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PMID: 32335897
DOI: 10.1111/cge.13765

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