Low-level mesodermal somatic mutation mosaicism: Late-onset craniofacial and cervical spinal hyperostoses

Craniofacial and cervical spinal hyperostoses are rarely seen in the absence of other abnormalities. Only seven patients with isolated cranial hyperostoses have been reported, and only a single patient with both calvarial and cervical vertebral hyperostoses. We report on an adult with late‐onset rig...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2014-03, Vol.164A (3), p.741-747
Main Authors: Kubota, Yoshitaka, Mitsukawa, Nobuyuki, Uchida, Michiko, Uchida, Yuuki, Akita, Shinsuke, Hasegawa, Masakazu, Satoh, Kaneshige
Format: Article
Language:English
Subjects:
Adult
Age of Onset
AKT1 protein
Cervical Vertebrae - pathology
Craniofacial Abnormalities - diagnosis
Craniofacial Abnormalities - genetics
DNA Mutational Analysis
Humans
hyperostosis
Hyperostosis - diagnosis
Hyperostosis - genetics
Male
Mesoderm - metabolism
Mosaicism
Mutation
Phenotype
Positron-Emission Tomography
Proteus syndrome
Proto-Oncogene Proteins c-akt - genetics
Radiography, Dental
Tomography, X-Ray Computed
v-akt murine thymoma viral oncogene homolog 1
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Craniofacial and cervical spinal hyperostoses are rarely seen in the absence of other abnormalities. Only seven patients with isolated cranial hyperostoses have been reported, and only a single patient with both calvarial and cervical vertebral hyperostoses. We report on an adult with late‐onset right‐sided asymmetrical hyperostoses of the cranium, mandible, and cervical vertebrae in the absence of an AKT1 mutation. At presentation, the patient displayed neither generalized overgrowth nor dysregulated adipose tissue. Standard polymerase chain reaction and Sanger sequencing of DNA extracted from formalin‐fixed paraffin‐embedded frontal bone and mandibular angular bone was negative for an AKT1 mutation. Though the patient's clinical manifestations did not fulfill the consensus diagnostic criteria of Proteus syndrome, the mosaic distribution of lesions, the sporadic occurrence, and the patient's progressive course were consistent with a somatic mosaicism similar to that syndrome. Hence, the patient's phenotype may have been caused by a very late mesodermal somatic mutation during embryogenesis. © 2013 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36310