家族性骨嗜酸性肉芽肿：在 CTSK 基因（组织蛋白酶 K）中发现一个新的突变。
Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
机构信息
Departamento de Genética, Centro Médico ISSEMYM, Ecatepec, Edo. Mex., Servicio de Genética, Hospital General de México, México DF, Mexico.
出版信息
J Investig Med. 2011 Feb;59(2):277-80. doi: 10.231/JIM.0b013e318202a9db.
BACKGROUND
Pycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localized on 1q21.
PURPOSE
To describe the clinical, radiological, and molecular findings in a family with pycnodysostosis.
METHODS
The CTSK gene was analyzed from genomic DNA in a nonconsanguinity Mexican family with 3 affected members with pycnodysostosis and 100 healthy controls.
RESULTS AND INTERPRETATION
We identified the novel homozygous mutation c.908G>A within exon 8 of the CTSK gene. This missense mutation leads to the substitution of the amino acid glycine at position 303 by glutamic acid (G303E) in cathepsin K protease. No genotype/phenotype correlation was present in affected members of the family with pycnodysostosis.
背景
原发性骨硬化性发育不良，又称石骨症，是一种常染色体隐性遗传性骨骼发育不良，其特征为身材矮小、骨硬化、颅缝闭合延迟、下颌骨发育不全、肢端骨溶解、锁骨发育不全和牙齿异常。该疾病由 CTSK 基因突变引起，该基因位于 1q21 上。
目的
描述一个石骨症家系的临床、影像学和分子学特征。
方法
对一个非近亲结婚的墨西哥石骨症家系中的 3 名患者和 100 名健康对照者的基因组 DNA 进行 CTSK 基因分析。
结果与解释
我们在 CTSK 基因的第 8 外显子中发现了一个新的纯合突变 c.908G>A。该错义突变导致组织蛋白酶 K 蛋白酶第 303 位的甘氨酸突变为谷氨酸（G303E）。石骨症患者家系中未发现基因型与表型的相关性。
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