PDF(Sci-hub)
Abstract：
Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same patients. We report a newborn girl with brachytelephalangic chondrodysplasia punctata (BCDP) as well as frontonasal dysplasia, ptosis, bilateral hearing loss, vertebral anomalies, and pulmonary hypoplasia who was found, by whole exome sequencing, to have a de novo pathogenic variant in RAF1 (c.770C>T, [p.Ser257Leu]) and a likely pathogenic variant in SIX2 (c.760G>A [p.A254T]), as well as maternal systemic lupus erythematosus (SLE). This case shows that BCDP is most probably not a diagnostic entity and can be associated with various conditions associated with CDP including maternal SLE.
摘要：
我们改进的工具来识别患有多种异常的患者的病因，结果发现一些患者患有多种遗传疾病，并且过去的某些诊断是获得性而不是遗传性的。然而,关于在同一患者中确定的不同遗传条件之间相互作用的表型结局的知识有限.我们报告了一名新生女孩，患有短触指软骨发育不良（BCDP）以及额鼻性发育不良，上睑下垂,双侧听力损失,椎骨异常,肺发育不全被发现，通过整个外显子组测序，在RAF1中有从头致病变异(c.770C>T，[p.Ser257Leu]）和SIX2中可能的致病性变体（c.760G>A[p。A254T]),以及母体系统性红斑狼疮（SLE）。这种情况表明BCDP很可能不是诊断实体，并且可能与包括母体SLE在内的与CDP相关的各种疾病有关。
