Literature DB >> 28771707

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

N Miyake1, M Inaba2, S Mizuno2, M Shiina3, E Imagawa1, S Miyatake1, M Nakashima1, T Mizuguchi1, A Takata1, K Ogata3, N Matsumoto1.   

Abstract

A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2017        PMID： 28771707     DOI： 10.1111/cge.13023

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  RNA-binding motifs of hnRNP K are critical for induction of antibody diversification by activation-induced cytidine deaminase.

Authors:  Ziwei Yin; Maki Kobayashi; Wenjun Hu; Koichi Higashi; Nasim A Begum; Ken Kurokawa; Tasuku Honjo
Journal:  Proc Natl Acad Sci U S A       Date:  2020-05-08       Impact factor: 11.205

Review 2.  Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Authors:  P Y Billie Au; Caitlin Goedhart; Marcia Ferguson; Jeroen Breckpot; Koenraad Devriendt; Klaas Wierenga; Elizabeth Fanning; Dorothy K Grange; Gail E Graham; Carolina Galarreta; Marilyn C Jones; Usha Kini; Helen Stewart; Jillian S Parboosingh; Antonie D Kline; A Micheil Innes
Journal:  Eur J Hum Genet       Date:  2018-06-14       Impact factor: 4.246

3.  Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Authors:  Mamiko Yamada; Yuichi Shiraishi; Tomoko Uehara; Hisato Suzuki; Toshiki Takenouchi; Chihiro Abe-Hatano; Kenji Kurosawa; Kenjiro Kosaki
Journal:  Mol Genet Genomic Med       Date:  2020-06-26       Impact factor: 2.183

4.  Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome.

Authors:  Xin Pan; Sihan Liu; Li Liu; Xu Zhang; Hong Yao; Bo Tan
Journal:  Front Genet       Date:  2022-03-29       Impact factor: 4.599
  4 in total

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