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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.

Original publication

DOI

10.1038/ng0592-149

Type

Journal article

Journal

Nat Genet

Publication Date

05/1992

Volume

1

Pages

149 - 152

Keywords

Base Sequence, DNA, DNA Mutational Analysis, Female, Genes, Recessive, Humans, Hypoparathyroidism, Male, Molecular Sequence Data, Parathyroid Hormone, Pedigree, RNA Splicing