The authors declare no conflicts of interest.
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
Article first published online: 5 JUL 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 3, pages 251–256, March 2013
How to Cite
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus., , , , , , , , , , , .
- Issue published online: 18 FEB 2013
- Article first published online: 5 JUL 2012
- Accepted manuscript online: 7 JUN 2012 03:56AM EST
- Manuscript Accepted: 4 JUN 2012
- Manuscript Revised: 25 MAY 2012
- Manuscript Received: 18 APR 2012
- Curekids New Zealand
- Lotteries Health NZ
- Marsden Fund
- intellectual disability;
- osteopathia striata with cranial sclerosis;
- skeletal dysplasia;
Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X-linked gene WTX (FAM123B, AMER1). Females present with longitudinal striations of sclerotic bone along the long axis of long bones and cranial sclerosis, with a high prevalence of cleft palate and hearing loss. Intellectual disability or neurodevelopmental delay is not observed in females with point mutations in WTX leading to OSCS. One female has been described with a deletion spanning multiple neighbouring genes suggesting that deletion of some neighbouring loci may result in abnormal neurodevelopment. In this cohort of 13 females with OSCS resulting from deletions of WTX, a relationship is observed where deletion of ARHGEF9 and/or MTMR8 in conjunction with WTX results in an additional neurodevelopmental phenotype whereas deletion of ASB12 along with WTX is associated with a good neurodevelopmental prognosis.