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: 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. 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.
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: 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. 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.
Authors: Miguel N Rivera; Woo Jae Kim; Julie Wells; David R Driscoll; Brian W Brannigan; Moonjoo Han; James C Kim; Andrew P Feinberg; William L Gerald; Sara O Vargas; Lynda Chin; A John Iafrate; Daphne W Bell; Daniel A Haber Journal: Science Date: 2007-01-04 Impact factor: 47.728
Authors: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander-Stumpel; Mafalda Barbosa; Jorge Pinto-Basto; Margarida Reis-Lima; Marie-Christine de Vernejoul; Kristin Becker; Marie-Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul Journal: J Bone Miner Res Date: 2010-01 Impact factor: 6.741
Authors: Zandra A Jenkins; Margriet van Kogelenberg; Tim Morgan; Aaron Jeffs; Ryuji Fukuzawa; Esther Pearl; Christina Thaller; Anne V Hing; Mary E Porteous; Sixto Garcia-Miñaur; Axel Bohring; Didier Lacombe; Fiona Stewart; Torunn Fiskerstrand; Laurence Bindoff; Siren Berland; Lesley C Adès; Michel Tchan; Albert David; Louise C Wilson; Raoul C M Hennekam; Dian Donnai; Sahar Mansour; Valérie Cormier-Daire; Stephen P Robertson Journal: Nat Genet Date: 2008-12-14 Impact factor: 38.330