| Publication year | Study | Study type / cohort | CDH23 germline variant(s) | Phenotype / tumor subtype | Key statistics | URL / DOI | Citation |
|---|---|---|---|---|---|---|---|
| 2017 | Zhang et al. | Discovery family by WES plus follow-up screening of 12 familial PA kindreds, 125 sporadic PA cases, and 260 controls | c.4136G>T (p.Arg1379Leu) segregating in one family; additional functional germline CDH23 variants reported across screened cohorts | Familial isolated pituitary adenoma; reported phenotypes included GH-secreting PA with acromegaly/high GH or IGF-1 and nonfunctioning PA | Functional CDH23 variants in 4/12 familial kindreds (33%), 15/125 sporadic cases (12%), and 2/260 controls (0.8%); gene-based association p=5.54×10^-7 | https://doi.org/10.1016/j.ajhg.2017.03.011 | (pqac-00000000, pqac-00000008) |
| 2024 | Alzahrani et al. | WES of 134 apparently sporadic pituitary adenomas | c.906G>C (p.E302D); c.1096G>A (p.A366T) | p.E302D: acromegaly-prolactinoma macroadenoma in a 48-year-old man; p.A366T: nonfunctioning macroadenoma in a 22-year-old woman | 2 CDH23 variants among 134 sporadic PA patients; study estimated likely pathogenic germline variants in PA-associated genes in ~6.7% overall; CDH23 variants were ACMG VUS/benign but AlphaMissense-likely pathogenic | https://doi.org/10.1210/jendso/bvae085 | (pqac-00000002, pqac-00000004) |
| 2024 | Gaspar et al. | Multigene panel analysis of 225 young-onset sporadic pituitary macroadenomas | p.Glu2520Lys (protein reported; cDNA not provided in excerpt) | Pituitary macroadenoma; subtype not specified in excerpt | 1/225 patients (~0.4%) carried a CDH23 P/LP variant; overall P/LP yield 16/225 (7.1%); authors described this as independent confirmation of CDH23 involvement | https://doi.org/10.1101/2024.06.02.24308129 | (pqac-00000005, pqac-00000006) |
| 2023 | Chakrabarti et al. | Patient-derived iPSC / PitNET organoid modeling from a CD patient with CDH23 mutation | Specific variant not given in abstract excerpt | Corticotroph PitNET / Cushing's disease model | No cohort frequency reported; organoids showed dysregulated cell cycle/proliferation, E2F upregulation, increased CD44/xCT antioxidant signaling, and skewing toward corticotroph/NOTCH trajectories | https://doi.org/10.1210/jendso/bvad114.1314 | (pqac-00000003) |
| 2025 | Ertorer et al. | WES of 20 Turkish FIPA cases from 12 families | p.Ala765Val | Familial isolated pituitary adenoma; affected sib-pair including an ACTH-secreting adenoma | CDH23 variant identified in 1/20 FIPA cases/families reported in this cohort (5% as summarized in excerpt) | https://doi.org/10.1038/s41598-025-08610-1 | (pqac-00000001) |
| 2026 | Albasri et al. | Single-case WES report | NM_022124.6:c.2621C>A (p.Ala874Asp) | Ultra-giant prolactinoma with extensive skull-base/nasopharyngeal invasion | Single case; giant prolactinomas occur in ~1–5% of prolactinomas; marked clinical/radiologic response to low-dose cabergoline reported | https://doi.org/10.1186/s13023-025-04161-w | (pqac-00000007, pqac-00000011) |


*Table: This table summarizes the key reported germline CDH23 variants linked to pituitary adenomas/PitNETs, including discovery and follow-up cohorts, tumor phenotypes, and available frequency statistics. It is useful for quickly comparing the strength and scope of evidence across studies.*