Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
-
Aman Ullah
,
Ranjha Khan
Abstract
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.
Acknowledgments
Aman Ullah is supported by Higher Education Commission of Pakistan through Indigenous PhD Fellowship (PIN: 213-56956-2BM2-133).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Mini Review
- Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
- Original Articles
- The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- Long non-coding RNA HCP5 serves as a ceRNA sponging miR-17-5p and miR-27a/b to regulate the pathogenesis of childhood obesity via the MAPK signaling pathway
- Once-weekly supervised combined training improves neurocognitive and psychobehavioral outcomes in young patients with type 1 diabetes mellitus
- Associations between thyroid-stimulating hormone, blood pressure and adiponectin are attenuated in children and adolescents with overweight or obesity
- Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children
- Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs
- Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa
- Case Reports
- Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
- Infantile cerebral infarction caused by severe diabetic ketoacidosis in new-onset type 1 diabetes mellitus
- Gallstone formation due to rapid weight loss through hyperthyroidism
- A neonate with mucolipidosis II and transient secondary hyperparathyroidism
- Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
