Mutations in the IKBKG Gene: Causes & Reasons

Possible Causes for Mutations in the IKBKG Gene

A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. [en.wikipedia.org]

IP is caused by mutation of the IKBKG/NEMO gene on Xq28. Deletion of exons 4 to 10 (NEMOΔ4-10) accounts for about 80% of cases (familial and sporadic). [pubfacts.com]

A novel nonsense mutation of the IKBKG gene Helen Fryssira, Talia Kakourou, Manthoula Valari, Kaliopi Stefanaki, Stella Amenta & Emmanuel Kanavakis Acta Paediatrica (2011) [nature.com]

Incontinentia Pigmenti Achromians

A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. [en.wikipedia.org]

IP is an X-linked dominant genetic disorder caused by changes (mutations) in the IKBKG gene. [rarediseases.org]

Mutations in the IKBKG gene prevent it from working, and cells that have the mutation are more prone to programmed cell death. [dermnetnz.org]

Autosomal Recessive Osteopetrosis Type 6

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition [medlineplus.gov]

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [en.wikipedia.org]

Osteopetrosis

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [ghr.nlm.nih.gov]

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [ghr.nlm.nih.gov]

Autosomal Recessive Osteopetrosis Type 1

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [medlineplus.gov]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [medlineplus.gov]

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition [medlineplus.gov]

Foveal Hypoplasia Type 2

Mutations in the IKBKG gene cause incontinentia pigmenti.[62] The disease is associated with occlusive changes throughout the retinal vasculature. [ncbi.nlm.nih.gov]

Landy-Donnai Syndrome

Cause of Incontinentia Pigmenti Mutations in the IKBKG gene, also called NEMO, that is located on the X-chromosome cause IP. [nfed.org]

gene mutation other than IKBKG. [ojrd.biomedcentral.com]

Analysis of gene mutation Genomic DNA was screened by single-tier polymerase chain reaction (PCR) amplification for the common deletion of exons 4–10 in the IKBKG (NEMO) gene [dovepress.com]

Hyper-IgM Syndrome Type 2

The condition results from mutations in the IKBKG gene at position 28q on the X chromosome that encodes NEMO. [lvts.fr]

Hyper-IgM Syndrome

The condition results from mutations in the IKBKG gene at position 28q on the X chromosome that encodes NEMO. [lvts.fr]

The other form of X-linked hyper-IgM (XL-HIGM) involving mutations in the NEMO (NF-kappa B essential modulator) gene (official symbol IKBKG) can be easily discriminated from [mayocliniclabs.com]

Hyper-IgM Syndrome Type 4

The condition results from mutations in the IKBKG gene at position 28q on the X chromosome that encodes NEMO. [lvts.fr]

Acheiria, unilateral

Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis. [howlingpixel.com]

Definitive diagnosis was reached by molecular investigation, as described in the “Analysis of gene mutation” section, which showed deletion of exons 4–10 on the IKBKG gene [dovepress.com]

Euhidrotic Ectodermal Dysplasia

It is classified as a X-linked osteopetrosis, and is caused by mutations (stop codon mutations) in the IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells [iofbonehealth.org]

Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID [uniprot.org]

Most patients bearing NEMO gene mutations (also called IKBKG, encoder of NEMO protein) have an impaired antibody response, in particular to glycans 17. [f1000research.com]

Acheiria

Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis. [howlingpixel.com]

Ectodermal Dysplasia Type 5 Hair Nail

Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. [ghr.nlm.nih.gov]

[…] in the IKBKG gene ( 300248.0016 ). [lymphedemapeople.com]

When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. [ghr.nlm.nih.gov]

Autosomal Recessive Osteopetrosis Type 2

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition [medlineplus.gov]

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [en.wikipedia.org]

Ectodermal Dysplasia

Hypomorphic mutations in the IKBKG gene result in different forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males without affecting carrier females [ncbi.nlm.nih.gov]

Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. [ghr.nlm.nih.gov]

It is classified as a X-linked osteopetrosis, and is caused by mutations (stop codon mutations) in the IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells [iofbonehealth.org]

Autosomal Recessive Osteopetrosis Type 7

[…] in the IKBKG gene ( 300248.0016 ). [lymphedemapeople.com]

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition [medlineplus.gov]

Autosomal Recessive Osteopetrosis Type 5

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [familydiagnosis.com]

It is classified as a X-linked osteopetrosis, and is caused by mutations (stop codon mutations) in the IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells [iofbonehealth.org]

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [en.wikipedia.org]

Hyper-IgM Syndrome Type 3

The condition results from mutations in the IKBKG gene at position 28q on the X chromosome that encodes NEMO. [lvts.fr]

Autosomal Dominant Osteopetrosis Type 2

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [ghr.nlm.nih.gov]

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

Mutations in other genes are less common causes of osteopetrosis. [rarediseases.info.nih.gov]

Autosomal Recessive Osteopetrosis Type 3

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition [medlineplus.gov]

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [en.wikipedia.org]

Cross Syndrome

A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. [en.wikipedia.org]

[…] del) removing exons 4 – 10 from the IKBKG gene. [5] Targeted mutation analysis are available to look for this mutation. [eyewiki.aao.org]

Confirmatory diagnosis can be made by demonstrating mutations in the IKBKG gene in situations in which there is ambiguity. Table 6. [healio.com]

Autosomal Dominant Osteosclerosis Type Worth

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [en.wikipedia.org]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [en.wikipedia.org]

Autosomal Dominant Osteopetrosis Type 1

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. [ghr.nlm.nih.gov]

Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis. Mutations in the IKBKG gene cause X-linked osteopetrosis. [en.wikipedia.org]

In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. [ncbi.nlm.nih.gov]

X-Linked Selective Tooth Agenesis Type 1

IKBKG gene mutations are also associated to syndromic oligodontia, observed in incontinentia pigmenti and HED with immunodeficiency (see these terms). [orpha.net]

Oligodontia-cancer predisposition syndrome (see this term) is due to AXIN2 gene mutations. [orpha.net]

Lymphedema Hypoparathyroidism Syndrome

It is classified as a X-linked osteopetrosis, and is caused by mutations (stop codon mutations) in the IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells [iofbonehealth.org]

Germline loss-of-function mutations in IKBKG are lethal in male fetuses. [iofbonehealth.org]

Gene IKBKG gene, Xq28 (OMIM gene/locus number #300248 ) Phenotype Lymphedema, anhidrotic ectodermal dysplasia, immunologic alterations (benign or severe infections), and osteopetrosis [iofbonehealth.org]

Intellectual Disability - Spasticity - Ectrodactyly Syndrome

Causes of IP Syndrome Incontinentia Pigmenti (IP) is caused by mutation in the IKK-gamma gene (IKBKG), also called NEMO, on chromosome Xq28. [nfed.org]

[…] anomalies, as well as multiple male miscarriages in the affected mother, the histopathologic skin findings at biopsy, or preferably the molecular confirmation for the causal gene [nfed.org]

Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. [en.wikipedia.org]

Molecular genetic testing of the NEMO IKBKG gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. [en.wikipedia.org]

Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha -induced apoptosis. [en.wikipedia.org]

Enamel Hypoplasia - Cataracts - Aqueductal Stenosis

Confirmatory diagnosis can be made by demonstrating mutations in the IKBKG gene in situations in which there is ambiguity. Table 6. [healio.com]

[…] in the NEMO gene, located on chromosome Xq28 (officially known as the IKBKG [inhibitor of kB kinase gamma] gene). [healio.com]

Incontinentia Pigmenti Incontinentia pigmenti (IP) is a relatively uncommon multisystem disorder with a prevalence of 0.7 per 100,000 people. 20 Over 70% of children with IP have mutations [healio.com]

Optic Atrophy Type 2

Causes of IP Syndrome Incontinentia Pigmenti (IP) is caused by mutation in the IKK-gamma gene (IKBKG), also called NEMO, on chromosome Xq28. [nfed.org]

[…] anomalies, as well as multiple male miscarriages in the affected mother, the histopathologic skin findings at biopsy, or preferably the molecular confirmation for the causal gene [nfed.org]