Shi Xulai, Zheng Feixia, Ye Xiuyun, Li Xiucui, Zhao Qianlei, Lin Zhongdong, Hu Ying, Wang Jiwen
Department of Neurology, Children's Medical Center, Qilu Hospital of Shandong University, Brain Science Research Institute, Shandong University, Jinan, Shandong Department of Pediatric Neurology, the Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Zhejiang Department of Neurology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Medicine (Baltimore). 2018 Apr;97(15):e0316. doi: 10.1097/MD.0000000000010316.
Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound heterozygous mutation.
We described a 6-year-old male patient with PKAN, exhibiting involuntary movement for a period of 1.5 years, as well as feeding difficulties for 2 weeks.
Due to brain computed tomography and magnetic resonance imaging results, and patient behavior, the attending physician suspected a hereditary effect.
The patient sample underwent high-throughput sequencing. Subsequently, his parents and sister were screened for the mutations identified in the patient genome.
High-throughput sequencing revealed a novel complex heterozygous mutation of the PANK2 gene, which was detected in the second and fourth exons, c.A650G, and c.T1341G, respectively, resulting in amino acid alterations (p.D217G and p.D447E, respectively). The child's father was confirmed to possess a heterozygous c.A650G mutation, while his mother was heterozygous for the c.T1341G mutation.
The key finding of the study encompassed the detection of a novel PANK2 gene mutation in a child of Chinese ethnicity with PKAN. The PANK2 gene c.A650G, as well as c.T1341G, mutations may be potential mutation hotspots in children with PKAN in Mainland China.
泛酸激酶相关神经退行性变（PKAN）是一种常染色体隐性遗传性疾病。在本报告中，鉴定了一名中国儿童的PANK2基因突变，并对其家庭成员进行了PKAN检测。我们的研究结果发现了一种全球范围内的新型复合杂合突变。
我们描述了一名患有PKAN的6岁男性患者，出现不自主运动1.5年，以及进食困难2周。
根据脑部计算机断层扫描和磁共振成像结果以及患者行为，主治医生怀疑存在遗传影响。
对患者样本进行高通量测序。随后，对他的父母和妹妹进行了患者基因组中鉴定出的突变筛查。
高通量测序揭示了PANK2基因的一种新型复合杂合突变，分别在第二和第四外显子中检测到，即c.A650G和c.T1341G，导致氨基酸改变（分别为p.D217G和p.D447E）。该儿童的父亲被证实携带杂合的c.A650G突变，而他的母亲则是c.T1341G突变的杂合子。
该研究的关键发现包括在一名患有PKAN的中国儿童中检测到一种新型的PANK2基因突变。PANK2基因的c.A650G以及c.T1341G突变可能是中国大陆PKAN患儿潜在的突变热点。
