Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene makes a protein that is essential for the normal development of skin cells. Although the protein's exact function is unknown, researchers believe that it probably plays a major role in the transport of lipids (fats) in the outermost layer of skin (the epidermis). Mutations in the ABCA12 gene lead to the production of an abnormally small version of the protein that cannot transport lipids properly. The loss of functional ABCA12 protein disrupts the normal development of the epidermis, preventing the skin from forming an effective barrier and resulting in the hard, thick scales characteristic of harlequin ichthyosis.
This condition is likely inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
Now, HI in Western populations is estimated to occur in 1/300,000 births, but in some populations, such as the Navajo, this number is estimated at 1/5,000, and in Puerto Rico, 1/60,000. These increased rates are mostly due to consanguinity: people mating with cousins (1st and third).
If Iraq's population is 26,074,906, then there should be 86.9 (87) Harlequin babies in Iraq right now. It really doesn't surprise me that Gunther found a few, as a child with these symptoms is bound to raise a few eyebrows.
Likewise, that disorder that he calls "Zyklopie" is a cleft palate deformity. 6,800 in the US are suffering from cleft palate disorders. 295,734,134 live in the US. That's 1/43,490 children. That's 599.6 (600) children in Iraq with cleft palate disorders, under normal conditions.
In other words, Gunther's pictures, at least in part, are of children suffering from perfectly normal disorders which are present in the population.
As a scientist, I can honestly say that Gunther's work is sloppy to say the least. If he'd wanted to prove a case for DU causing HI, he would have simply karyotyped the parents and grandparents of the children born with HI. If the grandparents' genotypes didn't contain ABCA12 mutations, then he might have a case, but as it stands he does not."
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