STX16
Syntaxin-16 (Syn16)
Publications[править]
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