The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13. 3
H Jüppner, E Schipani, M Bastepe… - Proceedings of the …, 1998 - National Acad Sciences
Proceedings of the National Academy of Sciences, 1998•National Acad Sciences
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance
are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib).
Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene,
had been excluded previously, we conducted a genome-wide search with four PHP-Ib
kindreds and established linkage to a small telomeric region on chromosome 20q, which
contains the stimulatory G protein gene. We, furthermore, showed that the genetic defect is …
are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib).
Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene,
had been excluded previously, we conducted a genome-wide search with four PHP-Ib
kindreds and established linkage to a small telomeric region on chromosome 20q, which
contains the stimulatory G protein gene. We, furthermore, showed that the genetic defect is …
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib). Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene, had been excluded previously, we conducted a genome-wide search with four PHP-Ib kindreds and established linkage to a small telomeric region on chromosome 20q, which contains the stimulatory G protein gene. We, furthermore, showed that the genetic defect is imprinted paternally and thus is inherited in the same mode as the PTH-resistant hypocalcemia in kindreds with PHP-Ia and/or pseudo-pseudohypoparathyroidism, two related disorders caused by different stimulatory G protein mutations.
National Acad Sciences