Mosaicism in osteopathia striata with cranial sclerosis.
BACKGROUND
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.


METHODS
DNA sequencing of peripheral blood and hair was performed to identify mutations in WTX. 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.


CONCLUSIONS
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.
Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.
Dennis J
DJ
Joseph
Shoji
S
Ichikawa
Michael J
MJ
Econs
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000483:Alleles; D001847:Bone Diseases / Q000150:complications* / Q000235:genetics; D004247:DNA / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000209:etiology* / Q000235:genetics; D018628:Gene Dosage; D006801:Humans; D008297:Male; D009030:Mosaicism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D025521:Tumor Suppressor Proteins / Q000235:genetics
C517118:AMER1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D025521:Tumor Suppressor Proteins; D004247:DNA