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DNA Ligase IV Syndrome

This is a LIG4 news story, published by Live Science.

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LIG4 syndrome

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faulty LIG4 gene
Live Science

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Science

Science

People with this rare genetic condition can't repair damage to their DNA

Live Science
Summary
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84% Informative

DNA ligase IV ( LIG4 ) syndrome is an extremely rare inherited condition that was first reported in the U.K. in 1990 .

It is caused by a mutation in the LIG4 gene, which carries the instructions needed to make a protein that helps repair a specific type of DNA damage.

People with the condition typically experience an array of symptoms, which may either develop soon after birth or later in life.

Symptoms include microcephaly , when a baby's brain is much smaller than expected; delays in growth and development; and a reduction in the amount of cells in the blood, including immune cells.

VR Score

81

Informative language

79

Neutral language

58

Article tone

informal

Language

English

Language complexity

56

Offensive language

not offensive

Hate speech

not hateful

Attention-grabbing headline

not detected

Known propaganda techniques

not detected

Time-value

long-living

External references

14

https://www.who.int/news-room/fact-sheets/detail/ionizing-radiation-and-health-effectshttps://onlinelibrary.wiley.com/doi/10.1002/pbc.22031https://www.ncbi.nlm.nih.gov/pubmed/17224058?dopt=Abstracthttps://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2018.00426/fullhttps://pmc.ncbi.nlm.nih.gov/articles/PMC188803/https://rarediseases.org/mondo-disease/dna-ligase-iv-deficiency/https://www.cdc.gov/birth-defects/about/microcephaly.htmlhttps://pmc.ncbi.nlm.nih.gov/articles/PMC7257218/https://www.niaid.nih.gov/diseases-conditions/severe-combined-immunodeficiency-scidhttps://www.sciencedirect.com/science/article/pii/S2214330020300912https://creativecommons.org/licenses/by/2.0/deed.enhttps://www.sciencedirect.com/science/article/pii/S0966327423001144https://pmc.ncbi.nlm.nih.gov/articles/PMC4994891/https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0520-1

Source diversity

11

www.who.intonlinelibrary.wiley.comwww.ncbi.nlm.nih.govwww.frontiersin.orgpmc.ncbi.nlm.nih.govrarediseases.orgwww.cdc.govwww.niaid.nih.govwww.sciencedirect.comcreativecommons.orgojrd.biomedcentral.com

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