Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

• Published in: The journal of clinical endocrinology and metabolism Vol. 102; no. 11; pp. 3961 - 3969
• Main Authors: Cinque, Luigia, Sparaneo, Angelo, Penta, Laura, Mencarelli, Amedea, Rogaia, Daniela, Esposito, Susanna, Fabrizio, Federico Pio, Baorda, Filomena, Verrotti, Alberto, Falorni, Alberto, Stangoni, Gabriela, Hendy, Geoffrey N, Guarnieri, Vito, Prontera, Paolo
• Format: Journal Article
• Language: English
• Published: Washington, DC Endocrine Society 01.11.2017; Copyright Oxford University Press; Oxford University Press
• Subjects: Adolescent; Adult; Calcium signalling; Calcium-sensing receptors; Child, Preschool; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Family; Female; Genes; Genes, Dominant; Genetic counseling; Genetic screening; Genomic analysis; Glial cells; Guanine; Guanine nucleotide-binding protein; HEK293 Cells; Hereditary diseases; Humans; Hydrophobicity; Hypocalcemia; Hypoparathyroidism; Hypoparathyroidism - genetics; Infant; Infant, Newborn; Male; Middle Aged; Mutants; Mutation; Parathyroid; Parathyroid hormone; Parathyroid Hormone - genetics; Parathyroid Hormone - metabolism; Pedigree; Phenylbutyric acid; Point mutation; Protein Sorting Signals - genetics; Secretion

ContextFamilial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein α11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only four cases with homozygo...