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Ogden Syndrome

History

Halena Black had her first son, Kenny Rae, in 1979. Being that he was her first born child, Black did not notice that something was wrong. Kenny Rae Black passed in 1980, right before his first birthday and was the first know infant to die from Ogden Syndrome. However, it did not end there. Halena Black continued to have children and in 1987 she had her next boy, Hyrum. From the start, Black noticed that Hyrum had the same characteristics as Kenny Rae but thought it was due to the fact that they were brothers. It did not cross her mind that they could share the same underlying disease. Like Kenny Rae, Hyrum passed before his first birthday. It was only until Black's daughters began having children of their own that she realized something was not right. The sons born to Black's daughters looked identical to her own sons and that was when Halena sought medical help. Answers came thirty years after Kenny Rae's death. Just before Lyon was about to publish his findings, another team researching a family living mainly in California contacted him. The newly found family had also lost three infant boys all with shockingly similar characteristics. Lyon tested the new family and found they shared the same rare mutation as the Black family.The existence of another family made this mutation a syndrome, and not something isolated to the Blacks.

Clinical Summary

The boys had heart rhythm abnormalities and craniofacial abnormalities, which accounts for their similar appearance. The boys are never able to sit up on their own, and none have learned to talk. They all have a characteristically aged appearance, earning them the family nickname of “little old men.”

Molecular Genetics

Ogden Syndrome is a lethal X-linked recessive condition. Because the affected gene is on the X-chromosome, it affects only males. It was the first reported human genetic disorder linked with a mutation in an N-terminal acetyltransferase (NAT) gene. Males have the Ser37Pro (S37P) mutation in the gene encoding NAA10, the catalytic subunit of NatA, the major human NAT involved in the co-translational acetylation of proteins. The S37P mutation swaps one amino acid for another, a Serine amino acid for a Proline, in just one part at the end of the resulting protein. This mutation changes the structure of the protein, which makes it less effective than a normal protein, causing a multitude of effects for the babies.