Ogden syndrome
Ogden syndrome | |
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Other names | Premature aging appearance-developmental delay-cardiac arrhythmia syndrome, N-terminal acetyltransferase deficiency |
Ogden syndrome, also known as N-terminal
Signs and symptoms
This is an X-linked condition affecting males more than females and is characterized by postnatal growth failure with developmental delays and
Biochemistry
Ogden syndrome is a lethal X-linked recessive condition. Because the affected gene is on the X-chromosome, it affects males far more severely due to the fact that males only carry one copy of the X chromosome so the mutation is in every cell but females carry two and therefore some cells may use the non mutated copy and others use the mutated copy. It was the first reported human genetic disorder linked with a mutation in an N-terminal acetyltransferase (NAT) gene.
Diagnosis
Whole exome sequencing is the definitive diagnostic method used to confirm OS.
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 known infant to die from Ogden syndrome.[5] 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. 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.[5]
Answers came thirty years after Kenny Rae's death. Ogden syndrome was discovered in 2011 by a team of researchers led by Gholson J. Lyon, consisting of: Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey J. Swensen, W. Evan Johnson, Barry Moore, Chad D. Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens, Tao Jiang, Christa Schank, Heidi Deborah Fain, Reid J. Robison, and 10 others. 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 similar characteristics. This new family shared the same rare mutation as the Black family. The existence of another family made this mutation a syndrome, and not something isolated.[2]
References
- PMID 21700266.
- ^ a b c d "More news on Ogden Syndrome from AAAS | Utah Foundation For Biomedical Research". Retrieved 2015-09-25.
- ^ PMID 25489052.
- PMID 19420222.
- ^ a b "Rare genetic mutation causes infant deaths in small town | AAAS MemberCentral". membercentral.aaas.org. Archived from the original on 2015-12-19. Retrieved 2015-09-25.