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

Clin Genet. 2017 Nov;92(5):554-555. doi: 10.1111/cge.13023. Epub 2017 Aug 3.

Authors

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

Affiliations

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
² Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
³ Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 28771707
DOI: 10.1111/cge.13023

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.

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / genetics*
Amino Acid Sequence
Base Sequence
Child, Preschool
Face / abnormalities*
Hematologic Diseases / genetics*
Heterogeneous-Nuclear Ribonucleoprotein K / chemistry
Heterogeneous-Nuclear Ribonucleoprotein K / genetics*
Humans
Male
Mutation, Missense / genetics*
Vestibular Diseases / genetics*

Substances

Heterogeneous-Nuclear Ribonucleoprotein K
HNRNPK protein, human

Supplementary concepts

Kabuki syndrome