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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females  Jennifer M. Bain, Megan T. Cho, Aida Telegrafi,

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Presentation on theme: "Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females  Jennifer M. Bain, Megan T. Cho, Aida Telegrafi,"— Presentation transcript:

1 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females 
Jennifer M. Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Brooks, Christina Botti, Gordon Gowans, Leigh Anne Autullo, Vidya Krishnamurthy, Marcia C. Willing, Tomi L. Toler, Bruria Ben-Zev, Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung  The American Journal of Human Genetics  Volume 99, Issue 3, Pages (September 2016) DOI: /j.ajhg Copyright © 2016 American Society of Human Genetics Terms and Conditions

2 Figure 1 HNRNPH2 Domains and Conservation among Various Family Members and across Species (A) HNRNPH2 domains. The numbers above (100, 200, 300, and 400) represent the amino acid sequence. Dotted arrows indicate the location of de novo variants at amino acid positions 206 and 209. Abbreviations are as follows: NLS, nuclear localization sequence; RRM, RNA recognition motifs; G, glycine-rich domain; Y, tyrosine-rich domain; R, arginine-rich domain. (B) Highly conserved sequences among members of the HNRNPH family, including HNRNPs H1 (H), H2 (H’), and F proteins. Highlighted boxes indicate amino acid residues 206 and 209 reported. (C) Cross species conservation of amino acids 206 and 209. Highlighted boxes indicate amino acid residues 206 and 209 reported. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

3 Figure 2 Magnetic Resonance Images of Affected Individuals
Axial T1-weighted (A) and coronal (B) STIR images of individual 2 demonstrating hypoplasia of cerebellar vermis at age 7 years old. Images obtained on a 1.5 Tesla MRI. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

4 Figure 3 Dysmorphic Features in Affected Individuals
Photographs of individual 1 (A–C) and individual 5 (D–F) with dysmorphic features including almond shaped eyes, short palpebral fissures, short philtrum, full lower lip, long columella, and hypoplastic alae nasi. Individual 1 is shown at 5 years of age (A) and 34 years of age (B, C). Individual 5 is shown at 21 years of age. Individual 2 (G) is shown at 8 years of age. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

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