Point mutation C18R in pre-pro-PTH gene in brother and sister with hypoparathyroidism, Fahr’s syndrome and epilepsy
Journal
International Journal of Recent in Art and Sciences
Date Issued
2021
Author(s)
Lejla Shabani-Misini
Biljana Todorova
Dijana Plashevska-Karanfilska
Abstract
Idiopathic hypoparathyreoidism may be sporadic or familial, and may occur as an isolated
defect or as a component of a more widespread disorder, such as autoimmune polyglandular failure
type 1 or various developmental abnormalities. Familial isolated hypoparathyreoidism (FIH) can
result from several types of genetic alterations, including, mutations in the calcium-sensing
receptor (CASR) gene, glial cells missing-2 (GCM-2), G protein a11 (GNA11), or in the PTH gene itself. X-linked recessive hypoparathyroidism, a rare congenital form of hypoparathyroidism has
also been described. Here, we report a family, brother and sister, with hypoparathyroidism, Fahr’s
syndrome and epilepsy diagnosed in early childhood. The genetic testing proved a rare, point
mutation in the PTH gene (C18R) with autosomal dominant inheritance. This is the first reported
family from North Macedonia with FIH due to mutation in the PTH gene.
defect or as a component of a more widespread disorder, such as autoimmune polyglandular failure
type 1 or various developmental abnormalities. Familial isolated hypoparathyreoidism (FIH) can
result from several types of genetic alterations, including, mutations in the calcium-sensing
receptor (CASR) gene, glial cells missing-2 (GCM-2), G protein a11 (GNA11), or in the PTH gene itself. X-linked recessive hypoparathyroidism, a rare congenital form of hypoparathyroidism has
also been described. Here, we report a family, brother and sister, with hypoparathyroidism, Fahr’s
syndrome and epilepsy diagnosed in early childhood. The genetic testing proved a rare, point
mutation in the PTH gene (C18R) with autosomal dominant inheritance. This is the first reported
family from North Macedonia with FIH due to mutation in the PTH gene.