Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Am J Med Genet A. 2013 Dec;161A(12):3161-5. doi: 10.1002/ajmg.a.36173. Epub 2013 Aug 16.
Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15.
表亲综合征，也称骨盆肩胛发育不良（OMIM 260660），其特征为身材矮小、颅面畸形和多种骨骼异常。1982 年首次在两兄弟中描述后，直到 2008 年才观察到两例无亲缘关系的患者，这两例患者均为 TBX15 框移突变的纯合子。我们研究了一名身材矮小的成年个体，其具有复杂的颅面畸形、耳畸形和旋转、短颈、肘挛缩、听力减退以及肩胛和骨盆骨发育不良。我们在 X 光片上发现 TBX15 存在纯合性新型无义突变（c.841C>T），该突变预测会导致提前终止（p.Arg281*），从而导致蛋白截断。该观察结果证实表亲综合征是由 TBX15 功能丧失引起的一致且临床上可识别的表型。
