Mosaicism in osteopathia striata with cranial sclerosis

Abstract

Context: Osteopathia striata with cranial sclerosis is an X-linked dominant condition caused by mutations in the WTX gene, resulting in linear striations in long bones in combination with cranial sclerosis. This condition is usually lethal in males. Objective/Patient: Our aim was to determine the underlying genetic cause in a 37-yr-old male with this condition. Design:DNAsequencing of peripheral bloodandhairwasperformed to identify mutations inWTX. Quantitative PCR was performed to determine gene copy number variation. Results: DNA sequenced from peripheral blood revealed the presence of two alleles at the 1108th position of the WTX gene. Subsequent DNA sequencing of hair follicles and quantitative PCR confirmed the presence of mosaicism. Conclusion: A novel mutation (c.1108G>T) found in our patient results in a truncated protein (E370X). Our patient represents the first confirmed case of mosaicism in osteopathia striata with cranial sclerosis. Copyright © 2010 by The Endocrine Society.