ReviewMolecular diagnosis & therapy2017
Netherton Syndrome: A Genotype-Phenotype Review.
Review in Molecular diagnosis & therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review.Frontiers in immunology · 2022Pooled it
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.Immunologic research · 2025Review
- Biologics and Small-Molecule Therapies in Netherton Syndrome: A Comprehensive Review.The Journal of dermatology · 2025Review
- KDM4A regulates microglial polarization after ischemic stroke by regulating SPINK5 signaling.Acta biochimica et biophysica Sinica · 2025Article
- The SPINK Protein Family in Cancer: Emerging Roles in Tumor Progression, Therapeutic Resistance, and Precision Oncology.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Global Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment.Life (Basel, Switzerland) · 2025Review
- Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study.Dermatology (Basel, Switzerland) · 2025Article
- Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism inFrontiers in immunology · 2025Article
- Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports.Frontiers in allergy · 2025Article
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report.Case reports in oncological medicine · 2025Article
- The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.Frontiers in genetics · 2025Article
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome.Journal of clinical immunology · 2024Article
- [A case of neonatal Netherton syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis.Frontiers in dental medicine · 2024Article
- Severe Hypernatremia as Presentation of Netherton Syndrome.Global medical genetics · 2023Article
- Mini-PBPK-Based Population Model and Covariate Analysis to Assess the Complex Pharmacokinetics and Pharmacodynamics of RO7449135, an Anti-KLK5/KLK7 Bispecific Antibody in Cynomolgus Monkeys.The AAPS journal · 2023Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families. Genotypes with mutations located more upstream in LEKTI correlate with more severe phenotypes compared with similar mutations located towards the 3' region. Furthermore, splicing mutations and post-transcriptional mechanism of nonsense-mediated mRNA decay affect LEKTI expression in variable ways. Genotype-phenotype correlations form the basis of prenatal diagnosis in families with a history of Netherton syndrome and when consanguinity is implied.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.