BIOMAT Database Logo BIOMAT Database Logo

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. 1992

D B Parkinson, and R V Thakker
Division of Molecular Medicine, MRC Clinical Research Centre, Harrow, Middlesex, UK.

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.

UI MeSH Term Description Entries
D007011 Hypoparathyroidism A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone. Idiopathic Hypoparathyroidism,Hypoparathyroidism, Idiopathic
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D010281 Parathyroid Hormone A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates. Natpara,PTH (1-84),PTH(1-34),Parathormone,Parathyrin,Parathyroid Hormone (1-34),Parathyroid Hormone (1-84),Parathyroid Hormone Peptide (1-34),Hormone, Parathyroid
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

D B Parkinson, and R V Thakker
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
August 2004, Investigative ophthalmology & visual science,
D B Parkinson, and R V Thakker
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
January 2016, Annals of Saudi medicine,
D B Parkinson, and R V Thakker
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
June 2010, The British journal of dermatology,
D B Parkinson, and R V Thakker
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
October 1999, The Journal of clinical endocrinology and metabolism,
D B Parkinson, and R V Thakker
Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome.
June 1998, Journal of cardiovascular electrophysiology,
D B Parkinson, and R V Thakker
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
January 2005, Human genetics,
D B Parkinson, and R V Thakker
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
October 2008, The British journal of ophthalmology,
D B Parkinson, and R V Thakker
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.
January 2019, The Journal of dermatology,
D B Parkinson, and R V Thakker
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
January 2010, Pediatric dermatology,
D B Parkinson, and R V Thakker
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
July 2006, Neuromuscular disorders : NMD,
Copied contents to your clipboard!