Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses

Vesna Marija van Midden, Lisa Kinsley, Avram Fraint, Dimitri Krainc, Niccolò E. Mencacci*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Keppen–Lubinsky syndrome is caused by pathogenic variants in KCNJ6, which encodes the inwardly rectifying channel subfamily J6. The four confirmed cases reported to date were characterized by severe intellectual disability, global developmental delay, feeding difficulties, and dysmorphic features. All but one of the cases also had a severe form of lipodystrophy, resulting in tightly adherent facial skin and appearance of premature aging. Here, we describe a 36-year-old female with a de novo pathogenic variant in KCNJ6 (NM_002240.5: c.460G>T; p.(Gly154Cys)) presenting with mild intellectual disability, subtle dysmorphic features, obsessive–compulsive disorder, and an exaggerated startle response. This case indicates that KCNJ6-related disorders should be considered in patients with less pronounced dysmorphic features and milder cognitive impairment, as well as in patients with startle disorders.

Original languageEnglish (US)
Pages (from-to)103-108
Number of pages6
JournalClinical genetics
Volume103
Issue number1
DOIs
StatePublished - Jan 2023

Keywords

  • Girk2
  • KCNJ6
  • KCNJ6-related disorders
  • Keppen–Lubinsky syndrome
  • case report
  • startle response

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint

Dive into the research topics of 'Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses'. Together they form a unique fingerprint.

Cite this