Lyon, Gholson J., Bird, Lynne M., Rope, Alan (2013) X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome). In: Inborn errors of development. Oxford University Press, Oxford; New York. ISBN 9780195306910 (Submitted)
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Abstract
This is a lethal X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and acquired cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C(p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase (NatA). This same mutation was identified in a second unrelated family, with three affected boys in two generations. This X-linked Malformation and Infantile Lethality Syndrome has provisionally been named Ogden Syndrome, in honor of the hometown where the first family resides.
| Item Type: | Book Section |
|---|---|
| Subjects: | diseases & disorders > congenital hereditary genetic diseases bioinformatics > genomics and proteomics diseases & disorders > congenital hereditary genetic diseases > mental retardation |
| CSHL Authors: | |
| Communities: | CSHL labs > Lyon lab |
| Depositing User: | Matt Covey |
| Date: | 2013 |
| Date Deposited: | 19 Feb 2013 15:58 |
| Last Modified: | 19 Feb 2013 15:58 |
| URI: | https://repository.cshl.edu/id/eprint/27483 |
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