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Ultraschall Med 2020; 41(02): 112-114
DOI: 10.1055/a-1104-3625
Title Page

Dual independent genetic etiologies in a lethal complex malformation phenotype

Zwei unabhängige genetische Ätiologien in einem letalen komplexen Fehlbildungsphänotyp
Isabel Filges
1   Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Agnes Genewein
2   Neonatology, University Children’s Hospital Basel and University of Basel, Switzerland
,
Peter Weber
3   Pediatric Neurology and Developmental Medicine, University Children’s Hospital Basel and University of Basel, Switzerland
,
Stephanie Meier
1   Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Nikolaus Deigendesch
4   Pathology, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Elisabeth Bruder
4   Pathology, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Friederike Prüfer
5   Pediatric Radiology, University Children’s Hospital Basel and University of Basel, Switzerland
,
Sevgi Tercanli
6   Center for Prenatal Ultrasound, Freie Strasse, Basel and University of Basel, Switzerland
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Introduction

The etiologic diagnosis of fetal anomaly syndromes remains difficult despite significant advances in prenatal ultrasound, fetal MRI and molecular genetic technologies. We present the challenges of a late prenatal presentation and adverse outcome in a child with multiple malformations, for which joint multidisciplinary efforts have led to a final dual diagnosis of autosomal recessive Boissel syndrome and geleophysic dysplasia.



Publikationsverlauf

Artikel online veröffentlicht:
07. April 2020

© Georg Thieme Verlag KG
Stuttgart · New York

 

  • References

  • 1 Rohena L. et al. FTO variant associated with malformation syndrome. Am J Med Genet A 2016; 170A: 1023-1028
    PubMedSuche in Google Scholar
  • 2 Boissel S. et al. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet 2009; 85: 106-111
    CrossrefPubMedSuche in Google Scholar
  • 3 Allali S. et al. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011; 48: 417-421
    CrossrefPubMedSuche in Google Scholar
  • 4 Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes. Prenat Diagn 2015; 35: 1005-1009
    CrossrefPubMedSuche in Google Scholar
  • 5 Lord J. et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019; 393: 747-757
    CrossrefPubMedSuche in Google Scholar
  • 6 Petrovski S. et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet 2019; 393: 758-767
    CrossrefPubMedSuche in Google Scholar
  • 7 Ferretti L, Mellis R, Chitty LS. Update on the use of exome sequencing in the diagnosis of fetal abnormalities. Eur J Med Genet 2019; 62: 103663
    CrossrefPubMedSuche in Google Scholar
  • 8 Monaghan KG. et al ACMG Professional Practice and Guidelines Committee. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020; [Epub ahead of print]
    CrossrefPubMedSuche in Google Scholar