Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.
Girk2
KCNJ6
KCNJ6-related disorders
Keppen-Lubinsky syndrome
case report
startle response
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
01 2023
01 2023
Historique:
revised:
29
08
2022
received:
30
06
2022
accepted:
01
09
2022
pubmed:
8
9
2022
medline:
15
12
2022
entrez:
7
9
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36071510
doi: 10.1111/cge.14226
pmc: PMC10087234
doi:
Substances chimiques
KCNJ6 protein, human
0
G Protein-Coupled Inwardly-Rectifying Potassium Channels
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
103-108Informations de copyright
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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