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Genetic and Rare Diseases Information Center (GARD)

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Duane syndrome


Other Names for this Disease
  • DRS
  • Duane anomaly
  • Duane retraction syndrome
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Your Question

My daughter has Duane retraction syndrome. She is also left-handed and has very small ears and ear lobes. No one else on my side of the family, or her father's, have these signs. When her father was younger he experimented with LSD. I don't know how many times he took the drug. I remember hearing years ago that people who have taken LSD might have offspring with missing chromosomes. Has this been verified as being one cause of the major missing chromosome for DRS?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is Duane syndrome inherited?

The majority of cases of Duane syndrome are sporadic (occurring in individuals with no history of the condition in the family). About 10% of affected individuals appear to have other affected family members. Both autosomal dominant (most commonly) and autosomal recessive forms of Duane syndrome have been documented. In some families with dominant Duane syndrome, it has appeared to "skip a generation" (showing reduced penetrance) and it has also been shown to range in severity within the same family (showing variable expressivity).[1] Most familial cases are not associated with other anomalies. Given the large percentage of sporadic cases, it seems likely that both genetic and environmental factors play a role in the development of Duane syndrome amongst affected individuals.[2][3] 
Last updated: 3/21/2012

What causes Duane syndrome?

Given the evidence that Duane syndrome (DS) results from an absence of the abducens nerve (cranial nerve VI) and aberrant innervation, and that it is associated with other anomalies in some cases, it is thought to result from a disturbance of normal embryonic development by either a genetic or an environmental factor at the time when the cranial nerves and ocular muscles are developing (between the third and sixth week of pregnancy). Genetic studies of two large families with DS inherited autosomal dominantly (without associated abnormalities) established that mutations in the CHN1 gene were found to be the cause in these and several other families.

Duane-radial ray syndrome (DRRS), inherited in an autosomal dominant manner, has been shown to be caused by mutations in the SALL4 gene. However, no SALL4 gene mutations were found in 25 sporadic cases of isolated DS (occurring in one individual in a family with no additional abnormalities).

DS can also be found as part of another complex autosomal recessive disorder (that can include deafness, facial weakness, vascular malformations and leaning difficulties) due to mutations in the HOXA1 gene. In addition, chromosome studies of individuals with DS and other abnormalities have, in rare cases, shown abnormalities that suggest other locations for genes responsible for causing DS.[1]
Last updated: 3/21/2012

Is there evidence that Duane syndrome can be caused by a parent taking LSD prior to conception?

We were unable to find any reports in the available medical literature that Duane syndrome may be caused by drugs (including LSD) taken by a parent prior to conception.

There have been conflicting reports in the medical literature regarding whether LSD causes chromosome abnormalities in the person using it. Early reports showed that LSD had the ability to cause chromosome abnormalities; however, other reports state that reasonable doses of LSD have no definite effect on human chromosomes.[4]
Last updated: 3/21/2012

References