Ullah Aman, Khan Ranjha, Naeem Muhammad
Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
Joint Centre for Human Reproduction and Genetics, Anhui Society for Cell Biology, School of Life Sciences, University of Science and Technology of China, Hefei, China.
J Pediatr Endocrinol Metab. 2019 Dec 18;32(12):1385-1389. doi: 10.1515/jpem-2019-0276.
Background Familial hypokalemic periodi9c paralysis (hypoKPP) is a rare autosomal dominant disorder characterized by episodic paralytic attacks caused by fall in blood potassium. CACNA1S, SCN4A or KCNJ2 variants can cause hypoKPP. Case presentation We investigated a Pakistani family affected with autosomal dominant familial hypoKPP through whole exome sequencing (WES). A heterozygous KCNJ2 missense variant c.919A > G was found segregating with the disease phenotype in the family. Conclusions The KCNJ2 missense variant is the likely cause of the disorder in the affected family. The finding should help improve antenatal screening and genetic counselling of this family.
背景 家族性低钾性周期性麻痹（低钾性周期性麻痹）是一种罕见的常染色体显性疾病，其特征是由血钾下降引起的发作性麻痹发作。CACNA1S、SCN4A或KCNJ2基因变异可导致低钾性周期性麻痹。病例报告 我们通过全外显子组测序（WES）对一个患有常染色体显性家族性低钾性周期性麻痹的巴基斯坦家族进行了调查。发现一个杂合的KCNJ2错义变异c.919A＞G与该家族的疾病表型共分离。结论 KCNJ2错义变异可能是该患病家族疾病的病因。这一发现应有助于改善该家族的产前筛查和遗传咨询。
