A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
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在一名年轻时被诊断为钻石型 Blackfan 贫血的患者中发现了 RPL11 的新致病性突变。
DOI：
10.1016/j.bcmd.2016.08.001
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发表时间：
2016
期刊：
影响因子：
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通讯作者：
Gazda,Hanna
中科院分区：
文献类型：
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作者：
Narla,Anupama;Yuan,Daniel;Kazerounian,Shideh;LaVasseur,Corinne;Ulirsch,JacobC;Narla,Jyothsna;Glader,Bertil;Sankaran,VijayG;Gazda,Hanna
我们报告了一个不寻常的情况下，钻石布莱克凡贫血（DBA）诊断在一个23岁的男性与一个新的突变确定RPL 11。患者在当地初级保健办公室就诊时处于正常健康状态，表现出严重疲劳和苍白。发现他的血红蛋白为4.6（正常13.5-17.7 g/dL），MCV为110（正常82-98 fL）。他接受了骨髓穿刺和活检，结果显示红细胞发育不全。在输注浓缩红细胞之前，输注前样本显示eADA升高至1.7（正常0.33-0.96 EU/g Hgb）。患者开始使用促红细胞生成素和铁，但没有反应，然后被转诊到我们斯坦福大学的中心。我们注意到病人比他的兄弟姐妹矮，有明显的拇指畸形（三指拇指）（图1）。随访超声心动图显示先天性心脏缺陷。他没有其他先天性异常或畸形。在与病人和家人的讨论中，他们认为他总是比他的兄弟姐妹更累，更苍白。我们从6个月大的入院时获得CBC，其显示血红蛋白为8.8，MCV为91（对于72-88 fL的年轻人来说是正常的）。对Ambry Genetics的初步检测显示，该患者为c型杂合子。RPL 11基因中未知意义的396+ 3ANG变体。在分析的其他基因中未检测到已知的致病性突变、未知意义的变体、总体缺失或重复。
We report an unusual case of Diamond Blackfan anemia (DBA) diagnosed in a 23 year-old male with a novel mutation identified in RPL11. The patient was in his usual state of health when he presented to his local primary care office with profound fatigue and pallor. He was found to have a hemoglobin of 4.6 (normal 13.5–17.7 g/dL) with a MCV of 110 (normal 82–98 fL). He underwent a bone marrow aspirate and biopsy, which revealed erythroid hypoplasia. Prior to being transfused with packed red blood cells, a pre-transfusion sample revealed an elevated eADA at 1.7 (normal 0.33–0.96 EU/g Hgb). The patient was started on erythropoietin and iron without response before being referred to our center at Stanford. We noted that the patient was shorter than his siblings and had an obvious thumb abnormality (triphalangeal thumb)(Fig. 1).A follow-up echocardiogram demonstrated congenital heart defects. He has no other congenital anomalies or dysmorphology. In discussion with the patient and family, they believe he always has been more tired and pale than his siblings. We obtained a CBC from an admission at age 6 months, which showed a hemoglobin of 8.8 and a MCV of 91 (normal for young age 72–88 fL). Initial testing to Ambry Genetics revealed that the patient was heterozygous for a c. 396+ 3ANG variant of unknown significance in the RPL11 gene. No known pathogenic mutations, variants of unknown significance, gross deletions or duplications were detected in the other genes analyzed.