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X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome 

X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome
Chapter:
X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome
Author(s):

Gholson J. Lyon

, Lynne M. Bird

, and Alan Rope

DOI:
10.1093/med/9780199934522.003.0169
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date: 25 February 2021

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.

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