PlumX Metrics
Embed PlumX Metrics

Diagnosis of atelosteogenesis type i suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism

Revista Brasileira de Ginecologia e Obstetricia, ISSN: 0100-7203, Vol: 40, Issue: 9, Page: 570-575
2018
  • 3
    Citations
  • 637
    Usage
  • 8
    Captures
  • 0
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

Article Description

Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ∼ 20% of the evaluated cells and, therefore, confirming the diagnosis of mosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.

Provide Feedback

Have ideas for a new metric? Would you like to see something else here?Let us know