Fact check on Daily Mail piece about teenager with WAGR/11p deletion syndrome

A recent Daily Mail article aroused our interest. The piece features Gemma who has WAGR, also known as 11p deletion syndrome after its genetic cause. It includes aniridia among its possible symptoms.

We were glad to see a national newspaper raising the profile of this rare condition. However a number of statements in the article sounded strange to us or merited investigation. Jenny, one of our trustees is the UK representative of the International WAGR Syndrome Association (IWSA). So she asked Kelly Trout, their Health Consultant to comment.

The Daily Mail claims WAGR is a “70million to one condition affecting fewer than 100 people worldwide”.
IWSA point to a study that gives an incidence of 500,000:1 and that they have around 300 members. Aniridia Network UK (ANUK) alone knows of 21 people here.

Another claim was that Gemma is “expected to get ovarian cancer in next few years “.
IWSA say “Both males and females are at risk for a type of cancer called gonadoblastoma”. The incidence is not known but is increased if they are born with certain genital deformities.

The full text of IWSA’s factsheet is below. It’s very interesting background knowledge.

We at Aniridia Network UK want to say a big thank you to Kelly and IWSA for taking their time to respond so fully on this matter.

We also invite Gemma,  her family and any others with WAGR in the UK to join our community. We provide useful resources and our support, plus that of others in a similar situation. In the meantime we wish Gemma all the best, including medically and academically as she grows up.

Facts about WAGR/11p Deletion Syndrome

Kelly Trout, RN, BSN
Health Consultant
International WAGR Syndrome Association
November, 2011

How common is WAGR/11p Deletion Syndrome?

The actual incidence has not been determined.  However, some indication of the number of people affected can be derived from the following:

  • “WAGR/11p Deletion Syndrome occurs in one out of every 500,000 to 1 million persons” (1).
  • There are approximately 300 members of the International WAGR Syndrome Association.  The IWSA is the only organization in the world dedicated to information and support for this disorder (2)
  • Worldwide, the incidence of aniridia (a feature present in nearly all cases of WAGR/11p Deletion Syndrome) is thought to be approximately 1/96,000.  85% of these are familial (inherited), 15% are sporadic (not inherited). One third of sporadic cases of aniridia are found to be WAGR/11p Deletion Syndrome (3).
  • Worldwide, the incidence of Wilms tumor (a feature present in 50% of cases of WAGR/11p Deletion Syndrome) is 1/10,000 (4).  In a study of 3442 US children with Wilms tumor, 26 had WAGR/11p Deletion Syndrome, a rate of less than 1% (5).

What is the risk of ovarian cancer in females with WAGR/11p Deletion Syndrome?

Both males and females with WAGR/11p Deletion Syndrome are at risk for a type of cancer called gonadoblastoma, which can form in the cells of the testes in males or the ovaries in females (6).  The actual incidence of this type of cancer in people with WAGR/11p Deletion Syndrome has not been determined.  However, this much is known:

  • In males, the risk for this type of cancer is increased in boys born with cryptorchidism (undescended testicle). The risk can be significantly decreased by surgical repositioning of the testicle into the scrotum (7).
  • In females, the risk for this type of cancer is increased in girls born with dysgenetic (“streak”) ovaries (8).  In a report of 7 cases of females with WAGR/11p Deletion Syndrome, 5 girls had absent, small, or abnormal ovaries, 1 of whom had gonadoblastoma (9).  Information about diagnosis and appropriate medical management can be found here: http://wagr.org/genitalissues.html

Pancreatitis and WAGR/11p Deletion Syndrome

Individuals with WAGR/11p Deletion Syndrome appear to be at increased risk for pancreatitis (10).  The actual incidence of pancreatitis is unknown.  However, the risk for this condition is thought to be increased because:

  • The PAX6 gene is deleted in most people with WAGR syndrome.  This gene is involved in the development of the pancreas, and it is possible that deletions of this gene may result in defects in the anatomy and function of the pancreas (11).
  • Many individuals with WAGR/11p Deletion Syndrome have a condition called “hyperlipidemia” or “hypertriglyceridemia.”  These conditions occur when there are high levels of fatty molecules in the blood, called lipids. It is thought that having high levels of fats in the blood increases the risk of pancreatitis (12).
  • Certain drugs can also cause pancreatitis, particularly in those who are predisposed to the condition.  These drugs include a wide variety of common medications and anesthetic agents (13).

References

  1. Low Levels of Brain Chemical May Lead to Obesity, NIH Study of Rare Disorder Shows
  2. International WAGR Syndrome Association
  3. Aniridia in the Newborn
  4. Epidemiology of Wilms Tumor
  5. WAGR Syndrome
  6. Testicular Cancer in Children
  7. The Facts on Undescended Testicles
  8. Gonadoblastoma
  9. Genital Abnormalities in WAGR Syndrome
  10. WAGR Syndrome and Pancreatitis
  11. PAX6 Controls the Expression of Critical Genes Involved in Pancreatic a Cell Differentiation and Function
  12. Learning About WAGR Syndrome
  13. Drug-Induced Pancreatitis
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About Aniridia Network UK

A charity support group for people with the genetic visual impairment aniridia and their families in the UK. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. Registered as a charity in 2011 with HMRC reference XT26830
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