Analysis of the GCMB gene for family hypoparathyroidism
Date Issued
2009
Date
2009
Author(s)
Chen, Ya-Fang
Abstract
Hypoparathyroidium (HP) is characterized by hypocalcemia and hyperphosphatemia due to deficient or absent secretion of parathyroid hormone (PTH). Familial isolated hypoparathyroidism (FIH) is associated with the mutation of several gene, including GCMB (MIN 603716), CaSR (MIN 601199), GATA3 (MIN 131320), and PTH (MIN 168450). FIH could be autosomoal dominant, autosomal recessive or X choromosome-linked in mode of inheritance. GCMB is identified as a transcription factor and plays a role in parathyroid gland development. Our study was to examine the GCMB gene in two HP patients of a HP family, who CaSR and GATA3 have been found to have no mutations. We identified a C to T at nucleotide position 323 in exon 5, present in one HP patient, and this point mutation was a nonsense mutation, so exon 5 of GCMB mutation in HP patient was not associated with HP. In future, we win analyze sequence of the other gene that are involved in the development of the parathyroid glands, and then establish a model of mutation detection and genetic counseling.
Subjects
familial hypoparathyroidism
hypocalcemia
GCMB gene
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