ArticleAmerican journal of human genetics2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed.
- [Incontinentia pigmenti-the skin never forgets].Dermatologie (Heidelberg, Germany) · 2026Article
- Consensus Guidance for Screening, Classification, and Treatment of Retinopathy Associated with Incontinentia Pigmenti.Ophthalmology science · 2026Article
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.Journal of clinical immunology · 2025Article
- Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.Nature genetics · 2025Review
- Article
- Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.Journal of clinical medicine · 2025Article
- Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.Human mutation · 2025Article
- Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.Orphanet journal of rare diseases · 2024Article
- Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.The Journal of experimental medicine · 2024Article
- Pitfalls of genetic testing in a patient with IKBKG deficiency.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2024Article
- An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.NPJ genomic medicine · 2024Article
- Data from electronic healthcare records expand our understanding of X-linked genetic diseases.American journal of medical genetics. Part A · 2024Article
- Oral Rehabilitation as Part of a Multidisciplinary Treatment in a Case Study of Pigmentary Incontinence.Children (Basel, Switzerland) · 2023Article
- A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.International journal of molecular sciences · 2023Article
- Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.International journal of molecular sciences · 2022Review
- Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology.Frontiers in pediatrics · 2022Review
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- Cutaneous mosaicism: Special considerations for women.International journal of women's dermatology · 2021Review
- Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti.Japanese journal of ophthalmology · 2020Article
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other "null" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation.
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