Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome

Am J Med Genet A. 2018 Sep;176(9):1968-1971. doi: 10.1002/ajmg.a.40362. Epub 2018 Aug 16.


Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain phenotypes, the most recognized being skeletal dysplasias associated with short stature, lead to cultural interaction and assortative mating. To this well-known example, may be added deafness which brings together individuals with a variety of deafness genotypes, some being dominant. Waardenburg syndrome is one such autosomal dominant disorder in which affected individuals may interact culturally because of deafness. Biallelic genetic alterations for two Waardenburg genes, PAX3 and MITF have been previously recognized. Herein, we report biallelic deletions in SOX10, a gene associated with Waardenburg syndromes type II and IV. The affected fetuses have a severe phenotype with a lack of fetal movement resulting in four-limb arthrogryposis and absence of palmar and plantar creases, white hair, dystopia canthorum, and in one case cleft palate and in the other a cardiac malformation.

Keywords: SOX10; Waardenburg syndrome; arthrogryposis; biallelic deletion; compound heterozygosity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22
  • Exome Sequencing
  • Female
  • Genetic Association Studies* / methods
  • Humans
  • Phenotype*
  • SOXE Transcription Factors / genetics*
  • Sequence Deletion*
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / genetics*


  • SOX10 protein, human
  • SOXE Transcription Factors

Supplementary concepts

  • Waardenburg syndrome type 2