Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.
J Clin Endocrinol Metab. 2010 Apr;95(4):1506-7. doi: 10.1210/jc.2009-2343. Epub 2010 Feb 11.
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.
DNA sequencing of peripheral blood and hair was performed to identify mutations in WTX. Quantitative PCR was performed to determine gene copy number variation.
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.
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.
颅骨硬化性条纹状骨病是一种 X 连锁显性遗传疾病，由 WTX 基因突变引起，导致长骨出现线性条纹，同时伴有颅骨硬化。这种疾病在男性中通常是致命的。目的/患者：我们的目的是确定一名患有这种疾病的 37 岁男性的潜在遗传原因。
对外周血和头发进行 WTX 基因突变的 DNA 测序。进行定量 PCR 以确定基因拷贝数变异。
外周血 DNA 测序显示 WTX 基因第 1108 位存在两个等位基因。随后对毛囊进行 DNA 测序和定量 PCR 证实了嵌合体的存在。
我们的患者发现了一种新的突变（c.1108G>T），导致截短蛋白（E370X）的产生。我们的患者代表了颅骨硬化性条纹状骨病中首例明确的嵌合体病例。
