First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination

Pediatr Dev Pathol. 2018 Nov-Dec;21(6):561-567. doi: 10.1177/1093526617744714. Epub 2017 Dec 7.


The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation. Incorporating the use of molecular pathology into the autopsy examination of fetuses with suspected congenital anomalies is vital for appropriate family counseling, and with the ability to use formalin-fixed and paraffin-embedded tissues, has become a practical approach in autopsy pathology.

Keywords: DNA microarray; SOX10; Waardenburg syndrome; forensic science; postmortem examination; prenatal cytogenetics.

Publication types

  • Case Reports

MeSH terms

  • Autopsy
  • Fatal Outcome
  • Female
  • Genetic Markers
  • Homozygote*
  • Humans
  • Loss of Function Mutation*
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • SOXE Transcription Factors / genetics*
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / genetics
  • Young Adult


  • Genetic Markers
  • SOX10 protein, human
  • SOXE Transcription Factors

Supplementary concepts

  • Waardenburg syndrome type 2