A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
- 1 May 1992
- journal article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 1 (2), 149-152
- https://doi.org/10.1038/ng0592-149
Abstract
Investigation of one kindred with autosomal recessive isolated hypoparathyroidism, which had resulted from a consanguineous marriage, has identified a g to c substitution in the first nucleotide of intron 2 of the parathyroid hormone (PTH) gene. This donor splice mutation could be detected by restriction enzyme cleavage with Ddel, and this revealed that the patients were homozygous for the mutant alleles, the unaffected relatives were heterozygous, and unrelated normals were homozygous for the wild type alleles. Defects in messenger RNA splicing were investigated by the detection of illegitimate transcription of the PTH gene in lymphoblastoid cells. The mutation resulted in exon skipping with a loss of exon 2, which encodes the initiation codon and the signal peptide, thereby causing parathyroid hormone deficiency.This publication has 25 references indexed in Scilit:
- Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.JCI Insight, 1990
- Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.JCI Insight, 1990
- Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species SpecificityScience, 1989
- Illegitimate transcription: transcription of any gene in any cell type.Proceedings of the National Academy of Sciences, 1989
- Transcription of the dystrophin gene in human muscle and non-muscle tissuesNature, 1988
- Familial Isolated HypoparathyroidismMedicine, 1986
- Human parathyroid hormone gene (PTH) is on short arm of chromosome 11Somatic Cell and Molecular Genetics, 1983
- Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindredThe Journal of Pediatrics, 1981
- Complete amino acid sequence of human parathyroid hormoneBiochemistry, 1978
- Familial Idiopathic HypoparathyroidismJournal of Clinical Endocrinology & Metabolism, 1968