A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency

Related Experiment Video

Updated: Jun 12, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Catherine M L Roberts1, Janet E Angus, Ian H Leach

  • 1Department of Dermatology, Nottingham University Hospitals, Nottingham, UK. catherine.roberts@nuh.nhs.uk

European Journal of Pediatrics
|May 26, 2010
PubMed

Insights

A novel mutation in the NEMO gene caused a rare genetic disorder in a boy, presenting as hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, and lymphoedema. This case highlights NEMO gene mutations in complex pediatric multisystem diseases.

Area of Science:

  • Genetics
  • Pediatrics
  • Immunology

Background:

  • Genetic conditions are a growing cause of multisystem diseases in children.
  • Hypohidrotic ectodermal dysplasia (HED) is a congenital disorder affecting teeth, hair, and sweat glands, often X-linked recessive.
  • Mutations in the NF-κβ essential modulator (NEMO) gene cause diverse disorders, including incontinentia pigmenti.

Observation:

  • A 6-year-old boy presented with a rare combination of hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, and lymphoedema.
  • This patient harbors a novel mutation in the NEMO gene.
  • He is the longest-surviving reported male with this specific constellation of symptoms.

Findings:

  • The patient's condition is linked to a previously unidentified mutation in the NEMO gene.
  • The clinical presentation includes features of incontinentia pigmenti, observed in the patient and his mother.
  • This case expands the known phenotypic spectrum associated with NEMO gene mutations.

Implications:

  • This report contributes to understanding the genetic basis of complex pediatric multisystem disorders.
  • It underscores the critical role of the NEMO gene in development and immune function.
  • Further research into NEMO-related disorders may improve diagnosis and therapeutic strategies for affected children.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...