Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation

Am J Med Genet A. 2019 May;179(5):822-826. doi: 10.1002/ajmg.a.61079. Epub 2019 Feb 21.

Abstract

Okamoto syndrome is characterized by severe intellectual disability, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, cardiac anomalies, and characteristic facial gestalt. Several patients have been reported. The basic mechanism of Okamoto syndrome has not been clarified. Au-Kline syndrome is a new syndrome due to loss-of-function variants in the HNRNPK (heterogeneous nuclear ribonucleoprotein K) gene. A new patient with Okamoto syndrome visited our hospital. We noticed that the patient had features overlapping with Au-Kline syndrome. We studied the HNRNPK gene by Sanger sequencing, and identified a novel splicing variant. We suggest that Okamoto syndrome is identical to Au-Kline syndrome.

Keywords: Au-Kline syndrome; HNRNPK; Okamoto syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child, Preschool
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exons
  • Facies
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Heterogeneous-Nuclear Ribonucleoprotein K / genetics*
  • Humans
  • Hydronephrosis / diagnosis*
  • Hydronephrosis / genetics*
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Introns
  • Male
  • Muscle Hypotonia / diagnosis*
  • Muscle Hypotonia / genetics*
  • Mutation*
  • Phenotype*
  • Radiography

Substances

  • Heterogeneous-Nuclear Ribonucleoprotein K
  • HNRNPK protein, human

Supplementary concepts

  • Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation