ArticleAmerican journal of medical genetics. Part A2015
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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
18 citing papers in PubMed, 49 citations in OpenAlex.
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.American journal of human genetics · 2025Article
- Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.Nature communications · 2024Article
- Inherited human RelB deficiency impairs innate and adaptive immunity to infection.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Functions of the RIP kinase family members in the skin.Cellular and molecular life sciences : CMLS · 2023Review
- Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.Italian journal of pediatrics · 2022Article
- Revisiting the embryogenesis of lip and palate development.Oral diseases · 2022Review
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- The Nuclear Factor Kappa B (NF-kB) signaling in cancer development and immune diseases.Genes & diseases · 2021Review
- Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia.International journal of surgery case reports · 2021Article
- The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.Human genetics · 2020Review
- Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.Molecular genetics & genomic medicine · 2018Article
- Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.BMC medical genetics · 2018Article
- IRF6 expression in basal epithelium partially rescues Irf6 knockout mice.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Article
- Toward an orofacial gene regulatory network.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Review
- Interferon Regulatory Factor 6 Has a Protective Role in the Host Response to Endotoxic Shock.PloS one · 2016Article
- Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.Frontiers in physiology · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 10 institutions in 6 countries.
Funding
Abstract
The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively. In this study, we report mutations in six pedigrees with children affected with PPS or BPS. Using a combination of Sanger and exome sequencing, we report the first case of an autosomal recessive popliteal pterygium syndrome caused by homozygous mutation of IRF6 and the first case of uniparental disomy of chromosome 21 leading to a recessive disorder. We also demonstrate that mutations in RIPK4 can cause features with a range of severity along the PPS-BPS spectrum and that mutations in IKKA can cause a range of features along the BPS-Cocoon spectrum. Our findings have clinical implications for genetic counseling of families with pterygia syndromes and further implicate IRF6, RIPK4, and CHUK (IKKA) in potentially interconnected pathways governing epidermal and craniofacial development.
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.