Alternative titles; symbols
ORPHA: 963; DO: 0112007;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xq26.3 | Pituitary adenoma 2, GH-secreting | 300943 | X-linked | 3 | GPR101 | 300393 |
A number sign (#) is used with this entry because of evidence that growth hormone-secreting pituitary adenoma-2 (PITA2) is caused by mutation in the GPR101 gene (300393) on chromosome Xq26.
For a general phenotypic description and a discussion of genetic heterogeneity of pituitary adenoma, see 102200.
Because GPR101 was implicated as the gene that drives the phenotype of X-linked early-onset gigantism related to a microduplication (see 300942), Trivellin et al. (2014) sequenced the GPR101 gene in 248 sporadic acromegaly patients. Trivellin et al. (2014) identified a recurrent GPR101 mutation (E308D; 300393.0001) in 11 of 248 sporadic acromegaly patients with somatic somatotropinoma. Three of these 11 appeared to carry a constitutive mutation that was detected in DNA from peripheral blood mononuclear cells (PBMCs). Trivellin et al. (2014) detected the mutation in the tumor DNA in the remaining 8 patients.
Kamenicky et al. (2015) screened their entire cohort of 263 patients with acromegaly or gigantism for germline mutations in GPR101 and found only 3 patients with the E308D mutation, including 2 previously reported by Trivellin et al. (2014); all 3 had adult-onset sporadic acromegaly. In another patient with sporadic acromegaly, Kamenicky et al. (2015) identified a novel germline D366E (300393.0002) mutation in the GPR101 gene. The mutation was not reported in the Exome Aggregation Consortium, 1000 Genomes Project, dbSNP, or Exome Variant Server databases.
Kamenicky, P., Bouligand, J., Chanson, P. Gigantism, acromegaly, and GPR101 mutations. (Letter) New Eng. J. Med. 372: 1264 only, 2015. [PubMed: 25806920] [Full Text: https://doi.org/10.1056/NEJMc1500340]
Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. New Eng. J. Med. 371: 2363-2374, 2014. [PubMed: 25470569] [Full Text: https://doi.org/10.1056/NEJMoa1408028]