Introduction and Objective: Autosomal dominant hypocalcemia type 1 (ADH1) is a hereditary disease caused by activating mutation of calcium – sensing receptor (CASR) gene, manifested as low parathyroid hormone (PTH) levels, hypocalcemia and hypercalciuria. Its clinical manifestations range from mild asymptomatic to severe hypocalcemia, which may be accompanied by epileptic seizures in severe cases. To better understand the relationship between neurological phenotypes and genotypes in ADH1,we comprehensively analyzed the clinical features related to epilepsy and reviewed the current literature.Methods: We reported a new heterozygous mutation in exon 7 of CASR in ADH1 in two generations: c.2452T>C (p.Trp818Arg), who showed symptoms of recurrent epileptic seizures caused by hypocalcemia. In addition, we summarized the cases with the same phenotype.Results: We summarized 43 patients with recurrent epilepsy, among whom 23 had intracranial calcification. Among these epilepsy patients, there were 37 different CASR mutation sites in total, mainly affecting the Venus flytrap domain (VFT, 44.4%) and transmembrane domains (TMD, 48.1%), with the mutations mainly concentrated in lobe 1 (LB1, 33.3%), TM5 and TM6 domains (18.5%).Conclusion: Mutations in specific domains of the CaSR protein may be associated with a higher rate of neurological manifestations.
Y. Luo: None. Q. Pan: None.
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