Key result
Whole exome sequencing identified a heterozygous KCNJ2 missense variant (c.919A > G) segregating with the disease phenotype in a Pakistani family with familial hypokalemic periodic paralysis.
Case Report
Whole exome sequencing identified a heterozygous KCNJ2 missense variant as the likely cause of autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family, aiding in genetic counseling.
May inform family-specific counseling; leaves open broader validation of this KCNJ2 variant in hypokalemic periodic paralysis.
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.
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Ullah et al. (2019) conducted a case report in Autosomal dominant familial hypokalemic periodic paralysis (hypoKPP). Heterozygous KCNJ2 missense variant c.919A > G was evaluated on Identification of genetic variant segregating with the disease phenotype. Whole exome sequencing identified a heterozygous KCNJ2 missense variant (c.919A > G) segregating with the disease phenotype in a Pakistani family with familial hypokalemic periodic paralysis.
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