PubMed ID | Description |
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29036646 | Slavotinek et al. (2017): Discussion of 8 patients with de novo, deleterious mutations in PBX1 (5 missense mutations which appeared to alter protein function as well as truncating mutations), all but one patient had developmental delay, and a variety of other abnormalities including genital, renal, cardiac/pulmonary, and craniofacial. |
28566479 | Heidet et al. (2017): in a study of patients with congenital anomalies of the kidney/urinary tract, they found 5 instances of LOF, de novo mutations/deletions within PBX1 |
28270404 | Le Tanno et al. (2017): study of 8 patients with 1q23.3q24.1 deletions, minimal common region was 276 kb overlapping only the PBX1 gene, all patients with bilateral renal hypoplasia, other common features were developmental delay and ear malformations |
Multiple de novo mutations, including deletions and other loss-of-function mutations, in PBX1 have been associated with a variable phenotype, including developmental delay, intellectual disability, renal and cardiac malformations, and other features.
No evidence available