ArticleClinical genetics2023
Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.
Article in Clinical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.Clinical genetics · 2023Article
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Authors and funding
5 authors at 1 institution in 2 countries.
Funding
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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.
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