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🦓 LearnNER Understanding DNA Repair Disorders

LearnNER is a Share & Care for Rare educational space created to help families and supporters better understand how DNA repair works and how differences in these processes affect children with rare DNA repair disorders.

This information is intended for general education and should not replace guidance from a medical care team.

How Nucleotide Excision Repair (NER) Works

The video below provides a general overview of how nucleotide excision repair (NER) works in the body. While it is not specific to Cockayne syndrome or Trichothiodystrophy, it may be helpful for understanding the basic DNA repair process.

Short on time? 

Start watching here (click link) at the section explaining how NER works → 7:30

Or watch the full video here (below)

Share & Care is working toward creating additional educational content that explains how DNA repair processes function differently in children affected by Cockayne syndrome and Trichothiodystrophy. More LearnNER resources will be added over time.

Common Features Associated With DNA Repair Disorders

Children affected by rare DNA repair disorders such as Cockayne syndrome and some forms of Trichothiodystrophy may share certain characteristics. The following is a list of the most common characteristics noted in reported cases of CS and TTD. These can vary widely from child to child, and not every individual will experience the same features, and some of these findings are progressive.

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Commonly reported characteristics may include:

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  • Social, jovial personalities

  • Sunburns easily

  • Brittle hair, slow hair growth

  • Progeria (premature aging)

  • Shortened lifespan

  • Microcephaly

  • Neurodevelopment delay

  • Growth delays or short stature (height <5th percentile)

  • Feeding problems

  • Contractures

  • Unsteady gait

  • Spasticity

  • Rounded back

  • Deep set eyes, small slender straight nose

  • Dental caries (cavities)

  • Retinopathy and/or cataracts

  • Hearing loss

  • Poor circulation (cold hands and feet)

  • Dry scaly skin

  • Low body temperature

  • Sleeping with eyes open

  • Tremors

  • White matter abnormalities

  • Basal ganglia calcifications

  • Liver abnormalities; elevated liver enzymes

  • Hypertension

  • Differences affecting multiple systems in the body

  • Extreme cuteness

Genes Associated With Cockayne Syndrome

Cockayne syndrome is caused by changes (mutations) in either the ERCC6 (CSB) or ERCC8 (CSA) genes. These genes provide instructions for making proteins that play an important role in repairing damaged DNA.

When one of these genes does not function as expected, the body’s ability to repair certain types of DNA damage is reduced. Over time, this can affect how cells function and contribute to the complex features seen in Cockayne syndrome, including growth differences and neurological involvement.

For a detailed medical overview of the genes involved in Cockayne syndrome, see GeneReviews®.

Genes Associated With Trichothiodystrophy (placeholder)

, see GeneReviews®. 

When DNA Repair Doesn’t Work as Expected (placeholder)
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