Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings

Clin Dysmorphol. 2016 Apr;25(2):45-9. doi: 10.1097/MCD.0000000000000116.


We report recurrence of osteopathia striata with cranial sclerosis (OSCS) in two full siblings conceived by unaffected parents. Molecular confirmation of OSCS in both siblings was achieved by identification of a novel heterozygous mutation in the WTX gene. Neither parent had clinical features of OSCS nor was the pathogenic mutation demonstrable in DNA extracted from both peripheral blood leucocytes and buccal cells. This case demonstrates germline mosaicism in OSCS and represents the third report of mosaicism affecting the germline in families with OSCS. Previous reports were of parental gonadosomal mosaicism, with one showing recurrence in multiple children. Our observation adds to a body of evidence that suggests that germline mosaicism in OSCS may occur more frequently than believed previously and may have implications for counselling families with OSCS.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • DNA Mutational Analysis
  • Female
  • Germ-Line Mutation*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mosaicism*
  • Mutation
  • Osteosclerosis / diagnosis*
  • Osteosclerosis / genetics*
  • Pedigree
  • Radiography
  • Siblings*
  • Tumor Suppressor Proteins / genetics


  • AMER1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Tumor Suppressor Proteins

Supplementary concepts

  • Osteopathia striata cranial sclerosis