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Comment
. 2019 Aug;96(2):183-185.
doi: 10.1111/cge.13580. Epub 2019 Jun 24.

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2

Wayne M Jepsen  1   2   3 , Keri Ramsey  1   2 , Szabolcs Szelinger  1   2 , Lorida Llaci  1   2 , Chris Balak  1   2 , Newell Belnap  2 , Cherae Bilagody  1   2 , Matthew De Both  1   2 , Raj Gupta  1 , Marcus Naymik  1   2 , Richa Pandey  1   2 , Ignazio S Piras  1   2 , Meredith Sanchez-Castillo  1   2 , Sampathkumar Rangasamy  1   2 , Vinodh Narayanan  1   2 , Matthew J Huentelman  1   2   3
Affiliations
Comment

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2

Wayne M Jepsen et al. Clin Genet. 2019 Aug.

Abstract

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Figures

Figure 1
Figure 1
HNRNPH2 is pictured at the top with the location of known causal mutations depicted below. Patient A's mutation (right) is in the nuclear localization sequence, and has been previously described in females by Bain, et al [2], while patient B's mutation (left) is in the second RNA recognition motif (RRM). WES (middle) reveals both patient's mutations are de novo. Mutations were confirmed by Sanger sequencing (bottom)
See this image and copyright information in PMC

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References

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