ArticleJournal of the American Academy of Dermatology2019
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
Article in Journal of the American Academy of Dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Reducing Unmet Needs in Hidradenitis Suppurativa by Including the Hair Follicle Among an Arsenal of Targets.Experimental dermatology · 2026Review
- Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report.Case reports in obstetrics and gynecology · 2026Article
- Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient.Journal of clinical medicine · 2025Article
- Sensing molecular carbon dioxide: a translational focus for respiratory disease.Physiological reviews · 2025Review
- A Protocol for the Automated Assessment of Cutaneous Pathology in a Mouse Model of Hemichannel Dysfunction.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Functional Consequences of Pathogenic Variants of theBiomolecules · 2023Review
- Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.International journal of molecular sciences · 2023Review
- The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation ofAnnals of dermatology · 2022Article
- Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.BMC medical genomics · 2022Article
- Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in theBalkan journal of medical genetics : BJMG · 2022Article
- Cellular mechanisms of connexin-based inherited diseases.Trends in cell biology · 2022Review
- Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.Scientific reports · 2021Article
- COInterface focus · 2021Review
- Review
- KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.Skin appendage disorders · 2021Article
- Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E.Journal of dermatological science · 2019Article
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 4 countries.
Funding
Abstract
backgroundInfant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.
objectiveWe sought to discover characteristics that account for poor outcomes in lethal KID syndrome.
methodsWe collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome. We performed new molecular modeling of the lethal mutants GJB2 p.A88V and GJB2 p.G45E.
resultsInfant death occurred in all patients with GJB2 p.G45E and p.A88V; it is unusual with other GJB2 mutations. Early death with those 2 "lethal" mutations is likely multifactorial: during life all had ≥1 serious infection; most had poor weight gain and severe respiratory difficulties; many had additional anatomic abnormalities. Structural modeling of GJB2 p.G45E identified no impact on the salt bridge previously predicted to account for abnormal central carbon dioxide sensing of GJB2 p.A88V. LIMITATIONS: This clinical review was retrospective.
conclusionGJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. Those electrophysiologically severe mutations in GJB2 reveal abnormalities in many organs in lethal KID syndrome. All patients with KID syndrome may have subtle abnormalities beyond the eyes, ears, and skin. Early genotyping of KID syndrome births will inform prognostic discussion.
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