Редактирование: STX16 (раздел)

==Publications==

{{medline-entry
|title=Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24127307
|abstract=Pseudohypoparathyroidism (PHP) is defined as resistance toward parathyroid hormones. PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the [[[[[[[[GNAS]]]]]]]] locus. This study investigated the clinical characteristics and performed a molecular analysis of PHP and PPHP. A total of 12 patients with (P)PHP from 11 unrelated families (4 with PHP-Ia, 6 with PHP-Ib, and 2 with PPHP) were characterized using both clinical and molecular methods. Clinical features included the presenting symptoms, Albright hereditary osteodystrophy features, and resistance to hormones. Comprehensive analysis of the [[[[[[[[GNAS]]]]]]]] and [[STX16]] loci was undertaken to investigate the molecular defects underlying (P)PHP. All PHP-Ib patients displayed hypocalcemic symptoms. All PHP-Ia patients showed resistance toward TSH, in addition to [[PTH]]. In most patients with PHP, when the diagnosis of PHP was first established, hypocalcemia and hyperphosphatemia were associated with a significant increase in serum [[PTH]] levels. One patient with PHP-Ia was diagnosed with growth hormone deficiency and showed a good response to human recombinant growth hormone therapy. 6 patients with PHP-Ia and PPHP showed 5 different mutations in the [[[[[[[[GNAS]]]]]]]] gene. 5 patients with PHP-Ib displayed a loss of differentially methylated region (DMR) imprints of the maternal [[[[[[[[GNAS]]]]]]]]. One PHP-Ib patient showed a de novo microdeletion in [[STX16]] and a loss of methylation of exon A/B on the maternal allele. No patients revealed paternal disomy among 4 patients with PHP-Ib. Identification of the molecular causes of PHP and PPHP explains their distinctive clinical features and enables confirmation of the diagnosis and exact genetic counseling.
|mesh-terms=* Adult
* Aging
* Asian Continental Ancestry Group
* Child
* Child, Preschool
* Chromogranins
* DNA
* DNA Methylation
* DNA Mutational Analysis
* Exons
* Female
* GTP-Binding Protein alpha Subunits, Gs
* Gene Deletion
* Growth
* Humans
* Male
* Microsatellite Repeats
* Polymerase Chain Reaction
* Pseudohypoparathyroidism
* Pseudopseudohypoparathyroidism
* Syntaxin 16

|full-text-url=https://sci-hub.do/10.1055/s-0033-1349867
}}